Focal facial dermal dysplasia 3, setleis type

Preferred Label : Focal facial dermal dysplasia 3, setleis type;

Symbol : FFDD3;

CISMeF acronym : FFDD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Focal facial dermal dysplasia, type II; Facial ectodermal dysplasia; Setleis syndrome; Bitemporal forceps marks syndrome;

Description : The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder 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 (summary by Slavotinek et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Drosophila Twist 2 gene (TWIST2, 607556.0001);

Prefixed ID : #227260;

Details

Origin ID

227260;

UMLS CUI

C1744559;

Automatic exact mappings (from CISMeF team)
- TWIST2 wt Allele [NCIt concept]
CISMeF manual mappings
- Focal Facial Dermal Dysplasia 3 [MeSH concept]
Currated CISMeF NLP mapping
- Bitemporal scars with abnormal eyelashes (disorder) [SNOMED CT concept]
- Facial ectodermal dysplasia [ICD-11 More detail]
- Facial ectodermal dysplasia [MeSH concept]
- Focal facial dermal dysplasia type II [ORDO Disease]
- Focal facial dermal dysplasia type III [ORDO Disease]
- Focal facial dermal dysplasia type III (disorder) [SNOMED CT concept]
- Setleis syndrome [PASCAL descriptor]
Genes related to phenotype
- Twist family bhlh transcription factor 2 [OMIM gene]
HPO term(s)
- Absent lower eyelashes [HPO term]
- Aged leonine appearance [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bitemporal forceps marks [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Chin with horizontal crease [HPO term]
- Depressed nasal bridge [HPO term]
- Distichiasis [HPO term]
- Epicanthus [HPO term]
- Flattened nasal bridge [HPO term]
- Low anterior hairline [HPO term]
- Periorbital fullness [HPO term]
- Sparse hair [HPO term]
- Thick upper lip vermilion [HPO term]
ORDO concept(s)
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia type III [ORDO Disease]
See also inter- (CISMeF)
- Focal facial dermal dysplasia type II (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bitemporal scars with abnormal eyelashes (disorder) [SNOMED CT concept]
- Congenital ectodermal dysplasia of face (disorder) [SNOMED CT concept]
- Facial ectodermal dysplasia [MeSH concept]
- Facial ectodermal dysplasia [ICD-11 More detail]
- Focal facial dermal dysplasia type II [ORDO Disease]
- Focal facial dermal dysplasia type III [ORDO Disease]
- Setleis syndrome [PASCAL descriptor]
Validated automatic mappings to NTBT
- Focal Facial Dermal Dysplasias [MeSH Descriptor]
- Focal facial dermal dysplasia [ORDO Disease]

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