Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
10q26.13
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. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 123790.1 | Saudi Arabia | Male | No | Abnormality of the face; Caudal appendag... Abnormality of the face; Caudal appendage; Syndactyly; Natal tooth; Choanal atresia  | NM_000141.5:c.870G>C | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | De novo mutation |