WebThe most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, and prominent finger joints and broad distal phalanges. [3] Major Features of NCBRS [ edit] Mild prenatal growth retardation WebJul 6, 2024 · Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities of the head and …

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WebCoffin–Siris Syndrome (CSS), first described in 1970 by Dr Coffin and Dr Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. … WebCoffin-Siris syndrome-8 (CSS8) is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and … jeans high

Coffin-Siris Syndrome - GeneReviews® - NCBI Bookshelf

WebFeb 2, 2024 · Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) is characterized … WebApr 4, 2013 · Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include … WebJan 30, 2024 · Coffin-Siris syndrome (CSS) is a rare hereditary condition noticeable from birth (congenital). Women are more affected than men, and only 200 cases have been … jeans high rise full length