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Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
Disease Summary
Associated Targets ()
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0011367: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0010076
MESH:C538181
OMIM:603740
UMLS:C1863556
MONDO:0011367
High level summary of knowledge for a disease, including descriptions and datasource references.