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focal facial dermal dysplasia

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0018363:  focal facial dermal dysplasia
DC:0000521: 
OMIMPS:136500: 
Orphanet:398166: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found