General Information of Disease (ID: DISYK1OV)

Disease Name Focal facial dermal dysplasia
Synonyms FFDD
Definition
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). 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 Hierarchy
DISLRS4M: Ectodermal dysplasia
DISYK1OV: Focal facial dermal dysplasia
Disease Identifiers
MONDO ID
MONDO_0018363
MESH ID
D000090303
UMLS CUI
C2936827
MedGen ID
445408
Orphanet ID
398166
SNOMED CT ID
789156003