Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Orpha code: 1352OMIM code: 600123

Definicja

A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Houlston-Ironton-Temple syndrome
Zespół Houlstona, Irontona i Temple'a
Kod ORPHA
1352
Kod OMIM
600123
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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