autosomaal dominant popliteaal pterygiumsyndroom (aandoening)
autosomaal dominant popliteaal pterygiumsyndroom
faciogenitopopliteaal syndroom
popliteaal websyndroom
Autosomal dominant popliteal pterygium syndrome
Popliteal web syndrome
Facio-genito-popliteal syndrome
A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Associated with mutations in the IRF6 gene (1q32.2-q32.3) which is involved in the formation of connective and epithelial tissues. Follows an autosomal dominant pattern of inheritance.
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1300
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified