Barber-Say Syndrome (BBRSAY)

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OMIM 57 209885 Disease Ontology 12 DOID:0060549 MeSH 44 C537908 D005141 D006983 D008265 D012868 more Orphanet 59 ORPHA1231 MESH via Orphanet 45 C537908 UMLS via Orphanet 74 C1319466

ICD10 via Orphanet 34 Q87.0 MedGen 42 C1319466 KEGG 37 H01934 SNOMED-CT via HPO 69 263681008 40159009 301348000 109504005 22810007 194021007 22006008 32958008 103276001 15188001 343087000 95828007 95515009 253255002 249321001 708670007 246803005 127559009 62909004 5639000 16386004 271607001 29966009 228156007 247578003 91138005 36440009 432788009 201093004 268290005 248820000 399979006 400190005 13401001 708541009 253212001 111324004 more UMLS 73 C1319466

NIH Rare Diseases : ⁵³ 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). Affiliated tissues include skin 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 : 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)

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 : ⁷⁵ 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.

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.