Focal facial dermal dysplasia

Orpha code: 398166OMIM code: 614974

Definicja

Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
FFDD
FFDD
Kod ORPHA
398166
Kod OMIM
614974
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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