Brain Malformations

Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed.

Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include antiseizure medicines, shunts to drain fluid from the brain, and physical therapy.

There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It's common for new babies to have slightly uneven heads, but parents should watch the shape of their baby's head for possible problems.

NIH: National Institute of Neurological Disorders and Stroke

Different Conditions

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Related ICD 10 COde
ICD 10 Code Q02

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Abnormal neuronal migration

A condition caused by failure of the cortex to correctly develop during the antenatal period, or by trauma. This condition is characterized by epileptic seizures. This condition may also present with learning impairments.
Related ICD 10 COde
ICD 10 Code Q07.9

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Anencephaly or similar anomalies

Amyelencephaly is the absence of both the brain and spinal cord.

Also Known As

  • Amyelencephalus
  • Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Cerebellar structural developmental anomalies

    A condition caused by failure of the cerebellum to correctly develop during the antenatal period. This condition may present with hypotonia, facial deformities, abnormalities in eyes or in ocular motricity, cognitive deficiencies, or motor dysfunction. Confirmation is through observation of a malformed cerebellum by imaging.
    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Cerebral structural developmental anomalies

    A condition caused by failure of the head to correctly develop during the antenatal period. This condition is characterized by a head size that is significantly smaller than normal for their age and sex. This condition may also present with developmental delays, difficulties with balance and coordination, short stature, hyperactivity, mental retardation, seizures, or other neurological abnormalities.

    Organ Affected

    Entire brain (body structure)|Brain structure (body structure)

    Abbreviated Terms

  • Hydromicrocephaly
  • Micrencephaly
  • brain hypoplasia
  • brain nondevelopment
  • cephalic hypoplasia
  • undeveloped brain
  • undeveloped cerebrum
  • Micrencephalon
  • anomaly of skull with microcephaly
  • skull agenesis with microcephaly
  • absence of skull bone with microcephaly
  • congenital skull deformity with microcephaly
  • Also Known As

  • microcephalic
  • microcephalus
  • nanocephaly
  • Microencephaly
  • congenital microcephaly
  • Related ICD 10 COde
    ICD 10 Code Q02

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Abbreviated Terms

  • Dandy Walker cyst
  • atresia of foramen of Luschka
  • atresia of foramen of Magendie
  • congenital blockage of foramen Magendie
  • congenital blocked foramen Magendie with hydrocephalus
  • Related ICD 10 COde
    ICD 10 Code Q03.1

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    Encephaloclastic disorders

    Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.
    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Also Known As

  • Apertura pyriformis with holoprosencephaly
  • Congenital stenosis of apertura pyriformis with holoprosencephaly
  • Congenital nasal pyriform aperture hypoplasia with holoprosencephaly
  • Related ICD 10 COde
    ICD 10 Code Q04.2

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Also Known As

  • Bilateral macroencephaly
  • Bilateral macrencephaly
  • Related ICD 10 COde
    ICD 10 Code Q04.5

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    Moyamoya syndrome

    Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain that causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese).

    Organ Affected

    Cerebrovascular system structure (body structure)

    Causes

    Stricture (morphologic abnormality)

    Also Known As

  • moyamoya
  • progressive intracranial arterial occlusion
  • moyamoya disorder
  • Related ICD 10 COde
    ICD 10 Code I67.5

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Nonacquired combined hypopituitarism

    Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary gland dysfunction and midline brain defects.

    Additional Information

    Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. Incidence is estimated at 1/10,000 live births. Severity varies and only 30% of patients manifest the complete clinical triad with many patients having associated findings. Some patients present at birth with SOD associated with multiple congenital anomalies, whereas others present during childhood with growth failure and/or visual anomalies (most frequently strabismus or nystagmus). The optic nerve hypoplasia can be uni- or bilateral (57% and 32% of cases, respectively) and significant visual impairment occurs in 23% of patients. Hypopituitarism is present in 62-80% of patients and although growth hormone deficiency (leading to short stature in childhood) is the most frequent endocrine anomaly, additional hormone insufficiencies may develop (thyroid-stimulating, adrenocorticotropic and gonadotropin-releasing hormone deficiencies). Midline brain defects include agenesis of the septum pellucidum (60% of cases) and/or corpus callosum. Associated cortical malformations have also been reported (sometimes referred to as SOD-plus syndrome). Intellectual deficit and neurological manifestations (developmental delay, seizures and cerebral palsy) may be present. Additional findings may include diabetes insipidus, sleep disorders, autism, precocious puberty, obesity, thermoregulatory disturbances, anosmia, sensorineural hearing loss and cardiac and digital anomalies. The majority of SOD cases are sporadic but familial cases have been described. Both homozygous (autosomal recessive transmission) and heterozygous (autosomal dominant transmission) HESX1 mutations (3p21.2-p21.1) have been described in familial cases. Three additional genes have been implicated in associated phenotypes that may be considered as part of the SOD spectrum: SOX2 mutations (3q26.3-q27) associated with anophthalmia/microphthalmia and features of SOD; mutations/duplications in the SOX3 gene (Xq26.3) associated with midline brain anomalies and hypopituitarism (although no eye defects have yet been described); and OTX2 mutations (14q21-q22) associated with hypopituitarism and anterior pituitary hypoplasia, with or without eye defects. Mutations in these genes are detected in < 1% of patients and environmental factors (drug and alcohol abuse, young maternal age) may also be involved. Clinical diagnosis requires the presence of at least two of the features of the classical triad and can be confirmed by ophthalmological studies, MRI, and dynamic pituitary function tests. SOD should be suspected in newborns with hypoglycemia, jaundice, microphallus (with or without undescended testes) and nystagmus with or without associated midline abnormalities (such as cleft palate). Differential diagnoses include congenital hypopituitarism and holoprosencephaly (see these terms). SOD may be suspected antenatally by ultrasound and subsequent fetal MRI studies. Genetic prenatal diagnosis and genetic counseling may be proposed to families in which the disease-causing mutation has been identified, but caution needs to be exercised in cases with autosomal dominant inheritance as the phenotype and penetrance may be highly variable. Treatment is symptomatic and SOD patients should be managed by a multidisciplinary team with regular follow-up. Hormone insufficiencies can be treated with hormone replacement therapy but close monitoring is required as the hormone deficiencies evolve with age. Children may benefit from developmental programs for the visually impaired, as well as from physical, and occupational therapies. Prognosis is variable, depending on the severity of the disease. Early diagnosis is associated with a better outcome as it allows timely management of hormone insufficiencies.

    Organ Affected

    Entire brain (body structure)|Brain structure (body structure)

    Also Known As

  • Septooptic dysplasia spectrum
  • De Morsier syndrome
  • septo-optic dysplasia sequence
  • SOD - [Septo-optic dysplasia]
  • Related ICD 10 COde
    ICD 10 Code Q04.4

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Structural developmental anomalies of the nervous system

    A condition caused by failure of the skull to correctly close during the antenatal period. This condition is characterized by herniation of the meninges. This condition may present with herniation of brain, or developmental delay. Confirmation is through observation of herniated meninges by imaging.

    Also Known As

  • Craniocele
  • Related ICD 10 COde
    ICD 10 Code Q07.9

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    Structural developmental anomalies of the neurenteric canal, spinal cord or vertebral column

    A condition caused by failure of the cerebellum to correctly develop during the antenatal period. This condition is characterized by extension of the cerebellar tonsils into the foramen magnum, without involving the brain stem. This condition may present as asymptomatic. Confirmation is through observation of the cerebellar tonsil extension by imaging.

    Also Known As

  • Chiari malformation type I
  • Arnold-Chiari obstruction type I
  • Related ICD 10 COde
    ICD 10 Code Q07.9

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    Structural developmental anomalies

    Any condition caused by failure of the nervous system to correctly develop during the antenatal period.
    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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    Related ICD 10 COde
    ICD 10 Code Q07.9

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