Aphalangy-syndactyly-microcephaly syndrome
Medical condition
From Wikipedia, the free encyclopedia
Aphalangy-syndactyly-microcephaly syndrome is a very rare limb malformation syndrome which is characterized by agenesis of the distal phalanges (distal aphalangia), syndactyly, duplication of the fourth metatarsal, microcephaly, and mild intellectual disabilities.[1] Only 6 cases[2][3][4][5] from 4 families in Spain, Turkey and other countries[6] have been reported in medical literature. Transmission is autosomal dominant.[7]
Preventionnone
PrognosisMedium
Frequencyvery rare, only 6 cases have been reported in medical literature.
| Aphalangy-syndactyly-microcephaly syndrome | |
|---|---|
| |
| Specialty | Medical genetics |
| Prevention | none |
| Prognosis | Medium |
| Frequency | very rare, only 6 cases have been reported in medical literature. |
| Deaths | - |
