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Acrocapitofemoral dysplasia

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Alternate names

ACFD

Definition

A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Epidemiology

It has been described in 5 individuals in 2 families.

Cause

Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients.

Inheritance

Autosomal recessive inheritance, a 25% chance

The condition is transmitted as an autosomal recessive trait.

Signs and symptoms

Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur, and, to a variable degree, at the shoulders, knees, and ankles.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

  • Coxa vara
  • Delayed skeletal maturation(Delayed bone maturation)
  • Micromelia(Smaller or shorter than typical limbs)
  • Short palm
  • Short stature(Decreased body height)
  • Skeletal dysplasia

30%-79% of people have these symptoms

  • Broad nail(Broad fingernails)
  • Cone-shaped metacarpal epiphyses(Cone-shaped end part of long bone)
  • Flared iliac wings
  • Genu varum(Outward bow-leggedness)
  • Hyperlordosis(Prominent swayback)
  • Ovoid vertebral bodies
  • Small nail(Small nails)

5%-29% of people have these symptoms

Diagnosis

Treatment

NIH genetic and rare disease info

Acrocapitofemoral dysplasia is a rare disease.

External links

Wikipedia
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