Barber-Say Syndrome (BBRSAY)

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Disease Ontology 12 DOID:0060549 OMIM 58 209885 KEGG 38 H01934 MeSH 45 C537908 D005141 D006983 D008265 D012868 more MESH via Orphanet 46 C537908 ICD10 via Orphanet 35 Q87.0

UMLS via Orphanet 75 C1319466 Orphanet 60 ORPHA1231 MedGen 43 C1319466 SNOMED-CT via HPO 70 103276001 109504005 111324004 127559009 13401001 15188001 16386004 194021007 201093004 22006008 22810007 228156007 246803005 247578003 248820000 249321001 253212001 253255002 263681008 268290005 271607001 29966009 301348000 32958008 343087000 36440009 399979006 400190005 40159009 432788009 5639000 62909004 708541009 708670007 91138005 95515009 95828007 more UMLS 74 C1319466

NIH Rare Diseases : ⁵⁴ 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 say syndrome, and has symptoms including dry skin An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways is Proteoglycans in cancer. Affiliated tissues include skin, breast and eye, and related phenotypes are hypertelorism and failure to thrive

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 : ⁵⁸ 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)

CDC : ³ BSE (bovine spongiform encephalopathy) is a progressive neurological disorder of cattle that results from infection by an unusual transmissible agent called a prion. The nature of the transmissible agent is not well understood. Currently, the most accepted theory is that the agent is a modified form of a normal protein known as prion protein. For reasons that are not yet understood, the normal prion protein changes into a pathogenic (harmful) form that then damages the central nervous system of cattle.

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth... more...

Clinical features from OMIM:

209885

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

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