It has been described in 5 individuals in 2 families.
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.
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
- Macrocephaly(Increased size of skull)
- Narrow chest(Low chest circumference)
- Pectus carinatum(Pigeon chest)
- Pectus excavatum(Funnel chest)
- Short thorax(Shorter than typical length between neck and abdomen)
NIH genetic and rare disease info
Acrocapitofemoral dysplasia is a rare disease.