has material basis in germline mutation in IHH brachydactyly type A1 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 https://www.malacards.org/card/brachydactyly_type_a1_2 UMLS:C1862151 BDA1 brachydactyly, Farabee type MEDGEN:354673 MONDO:0007215 MESH:C537088 brachydactyly Farabee type Orphanet:93388 GARD:0000978 SCTID:715720006 icd11.foundation:568452529 brachydactyly, type A1 DOID:0110964 OMIM:112500 A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. brachydactyly short stature with nonspecific skeletal abnormalities