Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
Definition
A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.
Also known as acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia — per MONDO