Barber-say syndrome

Preferred Label : Barber-say syndrome;

Symbol : BBRSAY;

CISMeF acronym : BBRSAY; BSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertrichosis, atrophic skin, ectropion, and macrostomia; BSS;

Description : Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010). Ablepharon-macrostomia syndrome (AMS; 200110) is a similar but apparently distinct disorder, distinguished by the fact that AMS patients have ablepharon or microblepharon rather than ectropion and more severe genital abnormalities (Stevens and Sargent, 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of Drosophila TWIST-2 gene (TWIST2, 607556.0005);

Prefixed ID : #209885;

Détails

Origin ID

209885;

UMLS CUI

C1319466;

Automatic exact mappings (from CISMeF team)
- Barber-Say syndrome [ICD-11 More detail]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-Spiegler syndrome [MeSH concept]
- GP1BA wt Allele [NCIt concept]
- TWIST2 wt Allele [NCIt concept]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Barber Say syndrome [MeSH concept]
- Barber-Say syndrome [DO Concept]
- Barber-Say syndrome [ORDO Disease]
- Barber-Say syndrome (disorder) [SNOMED CT concept]
- barber say syndrome [MeSH Supplementary Concept]
DO Cross reference
- Barber-Say syndrome [DO Concept]
Genes related to phenotype
- Twist family bhlh transcription factor 2 [OMIM gene]
HPO term(s)
- Abnormality of female external genitalia [HPO term]
- Abnormality of male external genitalia [HPO term]
- Abnormality of the pinna [HPO term]
- Absent nipple [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Delayed eruption of teeth [HPO term]
- Dermal atrophy [HPO term]
- Dry skin [HPO term]
- Ectropion [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypoplastic nipples [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Micrognathia [HPO term]
- Redundant skin [HPO term]
- Sparse and thin eyebrow [HPO term]
- Telecanthus [HPO term]
- Thin vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Barber-Say syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Barber Say syndrome [MeSH concept]
- Barber-Say syndrome [ORDO Disease]
- Barber-Say syndrome [DO Concept]
- Barber-Say syndrome (disorder) [SNOMED CT concept]
- barber say syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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