Autoszomális domináns
Caused by a change in one copy of one of several genes that make parts of the BAF (SWI/SNF) chromatin-remodelling complex, including ARID1B, ARID1A, ARID2, SMARCA4, SMARCB1, SMARCE1, SMARCC2, DPF2 and BICRA. In ARID1B, nearly all changes arise de novo.
Tünetek és jelek
Developmental delay and intellectual disability, ranging from mild to severe, with speech especially affected. Small or absent nails and end bones of the fifth fingers and toes, coarse facial features, thick eyebrows, sparse scalp hair and increased body hair are typical. Low muscle tone and feeding difficulties are common. About half of people have seizures. Heart, kidney, brain or eye differences and hearing loss can also occur.
Mit változtat a diagnózis
Developmental, speech and educational support, with assessment of growth, feeding, vision, hearing, heart and kidneys at diagnosis. Specialist follow-up depends on the gene and the features present. Most cases arise de novo, but genetic counselling and parental testing guide recurrence risk, as a parent may be affected in a few families.
Más néven
CSS; intellectual disability with absent fifth fingernail and terminal phalanx
12 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Coffin-Siris syndrome 1
- Coffin-Siris syndrome 10
- Coffin-Siris syndrome 11
- Coffin-Siris syndrome 12
- Coffin-Siris syndrome 5
- Coffin-Siris syndrome 6
- Coffin-Siris syndrome 7
- Coffin-Siris syndrome 8
- intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
- intellectual disability, autosomal dominant 14
- intellectual disability, autosomal dominant 15
- intellectual disability, autosomal dominant 16
