Preferred Label : Focal facial dermal dysplasia 1, brauer type;
Symbol : FFDD1;
CISMeF acronym : FFDD1;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Hereditary symmetrical aplastic nevi of temples; Brauer syndrome; Bitemporal aplasia cutis congenita;
Description : The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized
by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Cervantes-Barragan
et al. (2011) proposed a classification of FFDD in which there are 4 subtypes. FFDD1
(Brauer syndrome) is characterized by temporal skin depressions that resemble 'forceps
marks.' Other facial anomalies, comprising sparse lateral eyebrows, distichiasis,
and a flattened nasal tip, are usually mild. Inheritance is autosomal dominant. FFFD2
(Brauer-Setleis syndrome; 614973) is characterized by bitemporal skin lesions with
variable facial findings, including thin and puckered periorbital skin, distichiasis
and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a
broad nasal tip, large lips, and redundant facial skin. Inheritance is autosomal dominant.
FFDD3 (Setleis syndrome; 227260) is characterized by the same facial features as FFDD2,
but the inheritance is autosomal recessive. FFDD4 (614974) is characterized by isolated,
preauricular skin lesions with autosomal dominant or recessive inheritance (summary
by Slavotinek et al., 2013). - Genetic Heterogeneity of Focal Facial Dermal Dysplasia;
Inheritance : Autosomal dominant;
Prefixed ID : %136500;
Origin ID : 136500;
UMLS CUI : C5235196;
Automatic exact mappings (from CISMeF team)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- False automatic mappings
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
