BBRSAY
MCID: BRB006
MIFTS: 39
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Barber-Say Syndrome (BBRSAY)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Barber-Say Syndrome:
Characteristics:Inheritance:Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Skin diseases Ear diseases
ICD10:
32
Orphanet: 58
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GARD: 19 Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion), and a large mouth (macrostomia). Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. At least some cases of Barber Say syndrome are caused by genetic changes in the TWIST2 gene that is inherited in an autosomal dominant pattern. MalaCards based summary: Barber-Say Syndrome, also known as hypertrichosis, atrophic skin, ectropion, and macrostomia, is related to ablepharon-macrostomia syndrome and bernard-soulier syndrome, and has symptoms including dry skin An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin, eye and breast, and related phenotypes are failure to thrive and hearing impairment OMIM®: 57 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). (209885) (Updated 08-Dec-2022) Disease Ontology: 11 A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37. UniProtKB/Swiss-Prot: 73 A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. Orphanet: 58 Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. Wikipedia: 75 Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth... more... |
Human phenotypes related to Barber-Say Syndrome:58 30 (show top 50) (show all 61)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:209885 (Updated 08-Dec-2022)UMLS symptoms related to Barber-Say Syndrome:dry skin |
Cochrane evidence based reviews: barber say syndrome |
Organs/tissues related to Barber-Say Syndrome:
MalaCards :
Skin,
Eye,
Breast
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Articles related to Barber-Say Syndrome:(show all 29)
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ClinVar genetic disease variations for Barber-Say Syndrome:5
UniProtKB/Swiss-Prot genetic disease variations for Barber-Say Syndrome:73
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Search
GEO
for disease gene expression data for Barber-Say Syndrome.
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