trichorhinophalangeal syndrome type III (DOID:0080376)
Alliance: disease page
Synonyms: trichorhinophalangeal syndrome type 3
Alt IDs: OMIM:190351, ORDO:77258
Definition: A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.