Term Name: acrocapitofemoral dysplasia
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0050604]   ( DOID:0050604 )

Relationships
is a type of: autosomal recessive disease osteochondrodysplasia