What is Coffin Siris Syndrome? (Definition)
(Symptoms, Causes & Treatment)
According to the U.S. National Library of Medicine, Coffin-Siris syndrome is a condition which is typically identified by developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.
Most people affected with Coffin Siris syndrome have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. People may also have facial features which are described as being coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. An abnormally small head (microcephaly) may also be associated with this condition.
Not all affected individuals have the typical features.
See below for updated news and information regarding Coffin Siris Syndrome including new medical research, treatment options and advancements.
Latest Coffin Siris Syndrome Research – Treatment News, Discoveries and Findings
Clinical Resources: Treatment Therapies & Guidelines
Clinical Trials – Investigational Therapies
For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll Free: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search
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