acrocapitofemoral dysplasia

An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Ind

An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35.

Signs and symptoms

• Brachydactyly
• Short stature
• Short femoral neck
• Broad nail
• Single interphalangeal crease of fifth finger
• Limb undergrowth
• Short middle phalanx of finger
• Delayed ossification of carpal bones
• Short nail
• Lumbar hyperlordosis