X-linked chondrodysplasia punctata 1

X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood.Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge.People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.

Different Conditions

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Also Known As

  • chondrodysplasia punctata (stippled epiphyses) group
  • chondrodysplasia punctata congenita
  • dysplasia punctata epiphysis
  • dysplasia punctata
  • dysplasia epiphysealis punctata
  • chondrodystrophy of punctata
  • Related ICD 10 COde
    ICD 10 Code Q77.3

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    Also Known As

  • Toriello-Higgins-Miller syndrome
  • Related ICD 10 COde
    ICD 10 Code Q77.3

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    Disorders of cholesterol synthesis

    X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-H?‚?«‹?ť?•nermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the limbs and scoliosis, as well as affecting the skin, hair and eyes.

    Additional Information

    X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-H?‚??nermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the limbs and scoliosis, as well as affecting the skin, hair and eyes. Frequency is unknown. The disorder is caused by mutations in the emopamil binding protein gene, EBP, the encoded protein of which normally functions as a delta(8)-delta(7) sterol isomerase in the cholesterol biosynthesis pathway catalysing the conversion of 8(9)-cholestenol to lathosterol. To date, over 50 separate familial and recurrent mutations have been reported with no obvious correlation between the molecular defects and the severity of the clinical phenotype. There is significant intrafamilial and interfamilial phenotypic variability in patients with EBP mutations. Affected patients require dermatological care, as regular emollient application improves skin scaliness. Scoliosis and limb asymmetry lead to premature arthritis, requiring orthopaedic input. Genetic counselling, diagnostic DNA and biochemical tests and possible prenatal diagnosis should be offered to all families.

    Where It Occurs

    Skin System (Integumentary System)

    Also Known As

  • Chondrodystrophia calcificans congenita
  • Conradi-H?‚??nermann-Happle syndrome
  • Calcinosis universalis
  • Sterol D8-D7 isomerase deficiency
  • CDPX2 - [Chondrodysplasia punctata, X-linked dominant]
  • Related ICD 10 COde
    ICD 10 Code Q77.3

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    Rhizomelic chondrodysplasia punctata

    This is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 3 (RCDP3) is associated with AGPS mutations.

    Also Known As

  • Isolated alkyl DHAP synthase deficiency
  • Isolated alkyl dihydroxyacteone phosphate synthase deficiency
  • RCDP type 3 - [rhizomelic chondrodysplasia punctata type 3]
  • Related ICD 10 COde
    ICD 10 Code Q77.3

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