hereditary disease Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia https://www.malacards.org/card/acrodysplasia_with_ossification_abnormalities_short_stature_and_fibular_hypoplasia_2 UMLS:C1863556 MONDO:0011367 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia MESH:C538181 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. OMIM:603740 MEDGEN:355009