focal facial dermal dysplasia
http://purl.obolibrary.org/obo/MONDO_0018363
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. [ Orphanet:398166 ]
Term info
- OMIMPS:136500 (MONDO:equivalentTo)
- MESH:C537068 (MONDO:equivalentTo)
- Orphanet:398166 (MONDO:equivalentTo)
ordo_malformation_syndrome
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.
http://purl.obolibrary.org/obo/Orphanet_398166, https://omim.org/phenotypicSeries/PS136500, http://identifiers.org/mesh/C537068
FFDD
MONDO:0018363