Coffin-Siris Syndrome - Symptoms, Causes, Treatment | NORD
Jul 6, 2022 · 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 facial (craniofacial) area, resulting in a coarse facial appearance.
Coffin-Siris syndrome | About the Disease | GARD - Genetic and …
A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features. Summary.
Coffin–Siris syndrome - Wikipedia
Coffin–Siris syndrome (CSS), first described in 1970 by Dr Grange S. Coffin and Dr E. Siris, [1] [2] is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails.
Coffin-Siris Syndrome - GeneReviews® - NCBI Bookshelf
Apr 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, …
Coffin-Siris syndrome - MedlinePlus
Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.
Coffin-Siris syndrome: Symptoms and outlook - Medical News Today
Mar 6, 2023 · Coffin-Siris syndrome is a rare genetic disorder that affects multiple bodily systems. Healthcare professionals sometimes refer to Coffin-Siris syndrome as...
Coffin-Siris Syndrome: Signs, Genetics, and Diagnosis - Verywell …
Sep 6, 2024 · Coffin-Siris syndrome is a very rare genetic condition that affects multiple body systems. The range of symptoms that characterize it include developmental disability, physical abnormalities of the pinky toes and fingers, and distinctive, “coarse” facial features.
Coffin-siris syndrome 1 | About the Disease | GARD - Genetic and …
Coffin-Siris syndrome 1 (CSS1) is a rare genetic condition that affects various parts of the body. It is characterized by intellectual disability and distinctive facial features. Other symptoms include excessive body hair and sparse scalp hair.
Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most people with Coffin-Siris syndrome have facial features described as coarse.
Coffin-Siris syndrome (Concept Id: C0265338) - National Center …
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.