Genetic Disorders

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
  • Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Different Conditions

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46, XX disorders of sex development

Karyotype 46XX mostly associated with abnormal recombination between X and Y chromosomes (transfer of SRY from Y to X chromosome) ; gonadal sex testis; male phenotype

Also Known As

  • 46,XX testicular DSD
  • De la Chapelle syndrome
  • Related ICD 10 COde
    ICD 10 Code Q56

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    Related ICD 10 COde
    ICD 10 Code Q95

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    Related ICD 10 COde
    ICD 10 Code Q99.0

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    Chromosomal anomalies, excluding gene mutations

    Any disease caused by alteration of chromosomal structure with no net gain or loss of genetic material, or by the presence of a marker chromosome. Confirmation is through observation of a balanced chromosomal rearrangement by genetic testing.

    Abbreviated Terms

  • Robertsonian and balanced reciprocal translocations and insertions
  • Related ICD 10 COde
    ICD 10 Code Q95

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    Chromosomal disorders affecting the skin

    Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

    Also Known As

  • Monosomy 2q37
  • 2q37 deletion syndrome
  • Brachydactyly-intellectual deficit
  • Albright hereditary osteodystrophy 3
  • Albright hereditary osteodystrophy-like syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93.2

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    Complete monosomies of the autosomes

    Any disease caused by complete loss of an autosome. Confirmation is through observation of a missing autosome by karyoptyping.

    Also Known As

  • monosomy whole chromosome, meiotic nondisjunction
  • Related ICD 10 COde
    ICD 10 Code Q93.0

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    Complete trisomies of the autosomes

    Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

    Also Known As

  • Patau syndrome
  • complete trisomy 13 syndrome
  • d1 trisomy
  • d1 trisomy syndrome
  • d1 trisomy syndrome
  • d>1< trisomy syndrome
  • patau
  • trisomy 13
  • trisomy 13 syndrome
  • chromosome 13 trisomy
  • Related ICD 10 COde
    ICD 10 Code Q91

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    Also Known As

  • trisomy 13, meiotic nondisjunction
  • trisomy 13 syndrome, meiotic nondisjunction
  • Related ICD 10 COde
    ICD 10 Code Q91.4

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    Also Known As

  • partial trisomy 18 in Edward syndrome
  • trisomy 18 translocation
  • trisomy 18 chromosome translocation
  • trisomy 18 translocation syndrome
  • Related ICD 10 COde
    ICD 10 Code Q91.2

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    Deletions of chromosome 1

    Any disease caused by the loss of genetic material on the short arm of chromosome 1. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

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    Deletions of chromosome 10

    Any disease caused by the loss of genetic material on the short arm of chromosome 10. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

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    Deletions of chromosome 11

    Paris-Trousseau syndrome is a rare inherited platelet-based bleeding disorder characterized by clinical features such as intellectual deficit, cardiac malformations, and facial abnormalities associated with thrombocytopenia and dysmegakaryopoiesis. Two morphologically distinct populations of megakaryocytes (MKs) are present in the bone marrow of PTS patients: one is normal whereas the other one consists of small immature MKs undergoing massive lysis.
    Related ICD 10 COde
    ICD 10 Code Q93

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    Deletions of chromosome 12

    Any disease caused by the loss of genetic material on the long arm of chromosome 12. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

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    Deletions of chromosome 16

    Any disease caused by the loss of genetic material on the long arm of chromosome 16. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

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    Deletions of chromosome 17

    Any disease caused by the loss of genetic material on the long arm of chromosome 17. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 18

    Any disease caused by the loss of genetic material on the long arm of chromosome 18. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 19

    Any disease caused by the loss of genetic material on the short arm of chromosome 19. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 2

    Any disease caused by the loss of genetic material on the short arm of chromosome 2. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 20

    Any disease caused by the loss of genetic material on the short arm of chromosome 20. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

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    Also Known As

  • Distal 22q11.2 deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 3

    Any disease caused by the loss of genetic material on the long arm of chromosome 3. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

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    Deletions of chromosome 4

    Any disease caused by the loss of genetic material on the short arm of chromosome 4. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 5

    Any disease caused by the loss of genetic material on the short arm of chromosome 5. Confirmation is through observation of loss of genetic material by genetic testing.

    Also Known As

  • 5p partial deletion syndrome
  • 5p partial monosomy syndrome
  • partial deletion of short arm of chromosome 5 syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 6

    Any disease caused by the loss of genetic material on the short arm of chromosome 6. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 7

    Any disease caused by the loss of genetic material on the short arm of chromosome 7. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 8

    Any disease caused by the loss of genetic material on the short arm of chromosome 8. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of chromosome 9

    Any disease caused by the loss of genetic material on the long arm of chromosome 9. Confirmation is through observation of loss of genetic material by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the autosomes

    Any disease caused by the loss of genetic material on chromosome 2. Confirmation is through observation of loss of genetic material by genetic testing.

    Also Known As

  • Partial monosomy 2
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the long arm of chromosome 19

    19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.

    Also Known As

  • 19q13.11 deletion syndrome
  • Monosomy 19q13.11
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

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    Also Known As

  • Okihiro syndrome caused by monosomy 20q13
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the long arm of chromosome 9

    Interstitial 9q22.3 microdeletion is a chromosomal anomaly associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features are also observed.

    Also Known As

  • 9q22.3 microdeletion syndrome
  • Monosomy 9q22.3
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the short arm of chromosome 10

    Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Distal monosomy 10p encompassing the 10p13 band is associated with cardiac malformations and immune anomalies that overlap with the anomalies reported in the deletion 22q11 syndrome (DiGeorge syndrome/velocardiofacial syndrome spectrum (DGS/VCFS)).

    Also Known As

  • Distal 10p deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the short arm of chromosome 16

    16p11.2-p12.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental delay and facial dysmorphism (flat facies, downslanting palpebral fissures, low-set and malformed ears).

    Also Known As

  • 16p11.2p12.2 deletion syndrome
  • Monosomy 16p11.2-p12.2
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the short arm of chromosome 18

    Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate. A small subset of patients, about 10 to 15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly spectrum disorders.

    Also Known As

  • 18p deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the short arm of chromosome 19

    19p13.12 microdeletion syndrome is a chromosomal anomaly associated with moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.

    Also Known As

  • 19p13.12 deletion syndrome
  • Monosomy 19p13.12
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the short arm of chromosome 2

    2p15p16.1 microdeletion syndrome is a chromosomal ,nomaly characterized by developmental delay and facial dysmorphism (receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip).
    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the short arm of chromosome 20

    20p12.3 microdeletion syndrome is a chromosomal anomaly characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.

    Also Known As

  • 20p12.3 deletion syndrome
  • Monosomy 20p12.3
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Deletions of the short arm of chromosome 4

    Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

    Also Known As

  • 4p minus syndrome
  • 4p16.3 deletion
  • Related ICD 10 COde
    ICD 10 Code Q93.3

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    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of chromosome 15

    15q24 microdeletion syndrome is a rare, recently described syndrome characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

    Additional Information

    This syndrome is characterised by a growth retardation, intellectual deficit, microcephaly, digital anomalies, hypospadias, connective tissue anomalies, and facial dysmorphology (high anterior hair line, hypertelorism, broad medial eyebrows, downslanting palpebral fissures, broad nasal bridge, a long smooth philtrum and full lower lip). It has been described in four unrelated individuals. The syndrome is caused by de novo deletions in the 15q24 region.

    Also Known As

  • 15q24 deletion syndrome
  • Monosomy 15q24
  • Growth retardation - microcephaly - digital abnormalities - hypospadias
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • 21q22 deletion syndrome
  • Monosomy 21q22
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 1

    1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

    Also Known As

  • Distal 1q deletion syndrome
  • Distal monosomy 1q
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 11

    Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre- and postnatal growth retardation, psychomotor retardation, and a characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton.

    Also Known As

  • Monosomy 11q23.3
  • 11q23.3 microdeletion sdynrome
  • Telomeric deletion 11q
  • Monosomy 11qter
  • 11q23.3 deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 16

    16q24.3 microdeletion syndrome is a chromosomal anomaly associated with variable developmental delay, facial dysmorphism (high forehead, large ears, smooth philtrum, pointed chin and wide mouth), seizures and autistic spectrum disorder.

    Also Known As

  • 16q24.3 deletion syndrome
  • Monosomy 16q24.3
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 17

    17q23.1q23.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

    Also Known As

  • 17q23.1q23.2 deletion syndrome
  • Monosomy 17q23.1q23.2
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • 2q33.1 microdeletion syndrome
  • Monosomy 2q33.1
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 3

    Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.

    Also Known As

  • BPES syndrome due to 3q23 microdeletion
  • Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 5

    Distal monosomy 5q or deletion 5q35 is defined as a deletion of the terminal part of the long arm of chromosome 5 (5q) including bands 5q35.1 5q35.2 5q35.3., associated with a variable degree of facial dysmorphism, skull malformations, mild to severe developmental delay and cardiac defects.

    Also Known As

  • Distal 5q deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 6

    6q25 microdeletion syndrome is a chromosomal anomaly associated with developmental delay, facial dysmorphism and hearing loss.

    Also Known As

  • 6q25 deletion syndrome
  • Monosomy 6q25
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • 7q31 deletion syndrome
  • Monosomy 7q31
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the long arm of chromosome 8

    8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern.

    Additional Information

    The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. It has been reported in four unrelated patients. A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant. This microdeletion was identified by comparative genomic hybridisation (CGH) microarray.

    Also Known As

  • 8q22.1 deletion sydnrome
  • Trisomy 8q22.1
  • Nablus mask-like facial syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the short arm of chromosome 1

    Monosomy 1p36 is a distinct chromosome deletion syndrome characterized by usually severe developmental delay, behavioral difficulties and self-injury, hypotonia and feeding problems with oropharyngeal dysphagia are frequent, and seizures. Other dysmorphic, cardiac, visual and auditive features have been described.

    Additional Information

    Monosomy 1p36 has been increasingly recognized as a distinct chromosome deletion syndrome in the past few years. It is considered to be one of the commonest chromosome deletion syndromes, with an estimated incidence of 1 in 5,000 to 1 in 10,000 live births. The breakpoints for this cytogenetic syndrome have been variable and have ranged from bands 1p36.13 to 1p36.33. Developmental delay affects the majority of children with 1p36 monosomy and is usually severe. Behavioral difficulties and self-injury have been described. Hypotonia and feeding problems with oropharyngeal dysphagia are frequent; seizures have been a frequent and debilitating problem. Other dysmorphic, cardiac, visual and auditive features have been described. The management of 1p36 monosomy includes a comprehensive evaluation for the major clinical complications with an echocardiogram and ophthalmologic examination.

    Also Known As

  • 1p36 deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the short arm of chromosome 6

    Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities that mainly affect the anterior chamber of the eye, hearing loss, and facial dysmorphism.

    Also Known As

  • 6p25 microdeletion syndrome
  • Monosomy 6p25
  • 6p25 deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • Distal 7p deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Distal deletions of the short arm of chromosome 8

    8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

    Also Known As

  • 8p23.1 deletion syndrome
  • Monosomy 8p23.1
  • 8p23.1 microdeletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • Distal 9p deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Duplications of the autosomes

    Any disease caused by duplication of genetic material, in combination with other chromosomal rearrangements. This disease may be asymptomatic. Confirmation is through observation of duplications of genetic material in conjunction with other chromosomal rearrangements by genetic testing.
    Related ICD 10 COde
    ICD 10 Code Q92.5

    ----------------------

    Duplications with other complex rearrangements

    Cat-eye syndrome is a chromosomal anomaly syndrome characterized by two major features: anal atresia and coloboma of the iris, from which the name of the syndrome derives. However, patients present with a very heterogeneous range of manifestations, including : preauricular skin tags or/and pits, cardiac defects, cleft palate and urinary tract or skeletal anomalies and moderate intellectual deficit.

    Additional Information

    Cat-eye syndrome is characterized by two major features: anal atresia and coloboma of the iris, from which the name of the syndrome derives. However, patients present with a very heterogeneous range of symptoms: only 41% present with the classic triad of anal anomalies, coloboma of the iris and preauricular skin tags or/and pits. Other inconstant features include mild hypertelorism with downslanting palpebral fissures, cardiac defects, cleft palate and urinary tract or skeletal anomalies. Moderate intellectual deficit is present among 32% of patients. The estimated prevalence in the general population is 1 in 74 000. In 5/6 cases, the karyotype shows the presence of a small supernumerary chromosome derived from the proximal part of chromosome 22. Typically, this marker is bicentric and bisatellited, and results from an inverted duplication [invdup(22)].It is often present in a mosaic state. The presence of this extra marker chromosome is the most reliable diagnostic criterion for this syndrome. No correlations have been identified between the severity of the intellectual deficit and the presence of malformations, and the degree of the mosaicism or the size of the duplication. However, patients carrying small chromosome 22 markers containing no euchromatin display no associated phenotype. The inverted duplication of chromosome 22 usually occurs de novo and transmission is possible through both sexes, with a risk of transmission to the offspring of about 50%. Antenatal diagnosis is possible through karyotyping and Fluorescence In Situ Hybridization (FISH) analysis of prenatal samples. Surgery is required for patients with anal atresia and severe cardiac complications. A few patients with severe multiple malformations have died during infancy, but life expectancy is not significantly reduced for patients with few or mild manifestations.

    Also Known As

  • Ocular coloboma - imperforate anus
  • chromosome 22 inversion or duplication
  • Related ICD 10 COde
    ICD 10 Code Q92.5

    ----------------------

    Extra marker chromosomes

    Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities.

    Also Known As

  • Emanuel syndrome
  • Related ICD 10 COde
    ICD 10 Code Q92.6

    ----------------------

    Related ICD 10 COde
    ICD 10 Code N07

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    Related ICD 10 COde
    ICD 10 Code N07

    ----------------------

    Related ICD 10 COde
    ICD 10 Code N07

    ----------------------

    Related ICD 10 COde
    ICD 10 Code N07

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q98.6

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q98.5

    ----------------------

    Malformative disorders of sex development

    Congenital conditions characterized by atypical development of chromosomal, gonadal or phenotypic sex

    Also Known As

  • 46, XX DSD
  • Related ICD 10 COde
    ICD 10 Code Q56

    ----------------------

    Signs And Symptoms

  • Known OR suspected fetal abnormality affecting management of mother (disorder)
  • Abbreviated Terms

  • maternal care for central nervous system malformation in fetus
  • maternal care for fetal anencephaly
  • maternal care for fetal spina bifida
  • Maternal care for suspected fetal anencephaly
  • Maternal care for suspected fetal spina bifida
  • pregnancy management affected by fetal anencephaly
  • pregnancy management affected by fetal hydrocephalus
  • pregnancy management affected by fetal malformation central nervous system
  • pregnancy management affected by fetal spina bifida
  • Related ICD 10 COde
    ICD 10 Code O35.0

    ----------------------

    Also Known As

  • Monosomy 14q22q23
  • 14q22q23 deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Medial deletions of the long arm of chromosome 2

    2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

    Also Known As

  • 2q23.1 deletion syndrome
  • Monosomy 2q23.1
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Medial deletions of the long arm of chromosome 4

    The 4q21 microdeletion syndrome is a chromosomal anomaly associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

    Also Known As

  • 4q21 deletion syndrome
  • Monosomy 4q21
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Medial deletions of the short arm of chromosome 1

    1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.

    Also Known As

  • 1p21.3 microdeletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Multiple developmental anomalies or syndromes

    Any condition caused by failure of the genitals to correctly develop during the antenatal period.

    Also Known As

  • Ambiguous genitalia due to developmental anomalies
  • indeterminate sex and pseudohermaphroditism
  • Malformative DSD - [disorders of sex development]
  • Related ICD 10 COde
    ICD 10 Code Q56

    ----------------------

    Number anomalies of chromosome X

    Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings.

    Also Known As

  • triple X female
  • trisomy x syndrome
  • xxx syndrome
  • female triple x syndrome
  • triple x syndrome
  • triple x
  • Related ICD 10 COde
    ICD 10 Code Q97.0

    ----------------------

    Number anomalies of chromosome Y

    A condition affecting males, caused by the presence of supernumerary Y chromosomes. This condition is asymptomatic. Confirmation is through observation of supernumerary Y chromosomes by karyotyping.

    Also Known As

  • Karyotype 47,XYY
  • double y syndrome
  • xyy syndrome
  • Related ICD 10 COde
    ICD 10 Code Q98.5

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    Polyploidies

    A disease caused by two additional sets of chromosomes, for a total of 92 chromosomes. This disease commonly results in spontaneous abortion during the first trimester. Live births of tetraploidy individuals are very rare. These cases are characterized by facial dysmorphism, severely delayed growth and developmental delay. Confirmation is through observation of two additional set of chromosomes by karyotyping.
    Related ICD 10 COde
    ICD 10 Code Q92.7

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    Progressive ossification of skin, skeletal muscle, fascia, tendons or ligaments

    This is an extremely rare disease of the connective tissue where a mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified when damaged.

    Additional Information

    Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant form of connective tissue disorder characterized by congenital malformation of the great toes and progressive, disabling heterotopic osteogenesis in predictable anatomical patterns. Heterotopic bone formations lead to a debilitating, progressive ankylosis of the trunk, limbs and jaw. The mechanism by which bone forms out of muscles, tendons and ligaments is still poorly understood, but bone morphogenetic proteins (BMP), and particularly BMP4, are likely to play a direct or indirect role. The unraveling of the genetic defect is still hampered by the paucity of multigenerational families. Linkage studies suggest the FOP locus maps to chrosomome 4. A putative genetic heterogeneity, once hypothesized, has not been confirmed. Genetic counseling for FOP is difficult because of the absence of specific biological markers or reliable linkage studies. The risk of having a second affected child is nevertheless limited in a given family with a sporadic case. Therapeutic measures are essentially preventive and aimed at reducing the impact of trauma and falls and iatrogenic complications.

    Signs And Symptoms

  • Inflammation (qualifier value)
  • Inflammation (morphologic abnormality)
  • Organ Affected

    Skeletal and/or smooth muscle structure (body structure)

    Abbreviated Terms

  • polymyositis ossificans
  • myositis ossificans associated with dermatopolymyositis
  • Also Known As

  • Myositis ossificans progressiva
  • Man of stone
  • diffuse progressive ossifying polymyositis
  • fibrodysplasia ossificans congenita
  • myositis ossificans progressiva, site unspecified
  • M???nchmeyer disease
  • progressive myositis ossificans
  • FOP - [fibrodysplasia ossificans progressiva]
  • progressive myositis ossificans calcification
  • Related ICD 10 COde
    ICD 10 Code M61.1

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    Also Known As

  • 13q14 deletion sydnrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Proximal deletions of chromosome 14

    14q12 microdeletion syndrome is a chromosomal anomaly characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.

    Also Known As

  • Monosomy 14q12
  • 14q12 deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • Non-distal 10q deletion syndrome
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • 17q12 deletion syndrome
  • Monosomy 17q12
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Also Known As

  • 3q13 deletion syndrome
  • Monosomy 3q13
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Proximal deletions of the long arm of chromosome 5

    5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

    Also Known As

  • 5q14.3 deletion syndrome
  • Monosomy 5q14.3
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Also Known As

  • Distal 7q11.23 deletion syndrome
  • Distal monosomy 7q11.23
  • Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q93

    ----------------------

    Proximal deletions of the short arm of chromosome 8

    8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

    Also Known As

  • 8p11.2 deletion syndrome
  • Monosomy 8p11.2
  • Related ICD 10 COde
    ICD 10 Code Q93

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    Abbreviated Terms

  • family history of chromosomal anomaly
  • family history of congenital malformations
  • family history of congenital deformations
  • Related ICD 10 COde
    ICD 10 Code Z82.7

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    Sex chromosome anomalies

    Any disease caused by alteration in the structure of the Y chromosome. Confirmation is through detection of Y chromosome structural abnormalities by genetic testing.

    Also Known As

  • male with structurally abnormal sex chromosome
  • Related ICD 10 COde
    ICD 10 Code Q98.6

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    Related ICD 10 COde
    ICD 10 Code Q98.6

    ----------------------

    Structural developmental anomalies of ovaries, fallopian tubes or broad ligaments

    Karyotype 46 XX; Gonads: gonadal dysgenesis (streak gonads); Phenotype female with symptoms like primary amenorrhea, hypergonadotrophic hypogonadism, normal statuture and no other abnormalities.

    Also Known As

  • Follicular stimulating hormone-resistant ovaries
  • Resistant ovary syndrome
  • 46,XX pure gonadal dysgenesis
  • 46,XX complete gonadal dysgenesis
  • Hypergonadotropic ovarian dysgenesis
  • Dysgenetic ovaries
  • FSH-RO - [follicular stimulating hormone-resistant ovaries]
  • Related ICD 10 COde
    ICD 10 Code Q99

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