Beare-Stevenson Cutis Gyrata Syndrome (BSTVS)

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Disease Ontology 12 DOID:0050660 OMIM® 57 123790 KEGG 36 H01989 MeSH 44 D000052 D003398 D012868 ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 71 C1852406 Orphanet 58 ORPHA1555 MedGen 41 C1852406 SNOMED-CT via HPO 68 11375002 11934000 14582003 17790008 18265008 194021007 201091002 204508009 204878001 21119008 22006008 224958001 230145002 230745008 236780002 24184005 246800008 263681008 267036007 271825005 275480001 306963008 31069005 38341003 3855007 396347007 400096001 402599005 48069004 5102002 57219006 63567004 69056000 706885006 708670007 72129000 72239002 76976005 80801001 87979003 95325000 more UMLS 70 C1852406

MedlinePlus Genetics : ⁴³ Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), a malformation of the airways (tracheal cartilaginous sleeve), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.

MalaCards based summary : Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to acanthosis nigricans and craniosynostosis, and has symptoms including respiratory distress An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are RhoGDI Pathway and mTOR signalling. Affiliated tissues include skin, bone and pancreas, and related phenotypes are ptosis and depressed nasal bridge

Disease Ontology : ¹² A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has material basis in heterozygous mutation in the FGFR2 gene on chromosome 10q26.

GARD : ²⁰ Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans ) and the premature fusion of certain bones of the skull ( craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.

OMIM® : ⁵⁷ Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996). (123790) (Updated 20-May-2021)

KEGG : ³⁶ Beare-Stevenson cutis gyrata syndrome is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.

UniProtKB/Swiss-Prot : ⁷² Beare-Stevenson cutis gyrata syndrome: An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet.

Wikipedia : ⁷³ Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis... more...

Clinical features from OMIM®:

123790 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Beare-Stevenson Cutis Gyrata Syndrome

Search GEO for disease gene expression data for Beare-Stevenson Cutis Gyrata Syndrome.