Barber-Say Syndrome (BBRSAY)

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Disease Ontology 12 DOID:0060549 OMIM® 57 209885 KEGG 36 H01934 MeSH 44 C537908 D005141 D006983 D008265 D012868 more SNOMED-CT 67 408537003 MESH via Orphanet 45 C537908

ICD10 via Orphanet 33 Q87.0 UMLS via Orphanet 71 C1319466 Orphanet 58 ORPHA1231 MedGen 41 C1319466 SNOMED-CT via HPO 68 103276001 109504005 111324004 127559009 13401001 15188001 16386004 194021007 201093004 22006008 22810007 228156007 246803005 247578003 248820000 249321001 253255002 263681008 268290005 271607001 29966009 301348000 32958008 343087000 36440009 399979006 400190005 40159009 432788009 5639000 62909004 708541009 708670007 91138005 95515009 95828007 more UMLS 70 C1319466

GARD : ²⁰ 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). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.

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

Disease Ontology : ¹² 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.

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 05-Apr-2021)

KEGG : ³⁶ Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that AMS is due to mutations in TWIST2.

UniProtKB/Swiss-Prot : ⁷² Barber-Say syndrome: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.

Wikipedia : ⁷³ Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth... more...

Clinical features from OMIM®:

209885 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Barber-Say Syndrome

Search GEO for disease gene expression data for Barber-Say Syndrome.