Coffin-Siris syndrome

WikiDoc Resources for Coffin-Siris syndrome
Articles
Most recent articles on Coffin-Siris syndrome Most cited articles on Coffin-Siris syndrome Review articles on Coffin-Siris syndrome Articles on Coffin-Siris syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Coffin-Siris syndrome Images of Coffin-Siris syndrome Photos of Coffin-Siris syndrome Podcasts & MP3s on Coffin-Siris syndrome Videos on Coffin-Siris syndrome
Evidence Based Medicine
Cochrane Collaboration on Coffin-Siris syndrome Bandolier on Coffin-Siris syndrome TRIP on Coffin-Siris syndrome
Clinical Trials
Ongoing Trials on Coffin-Siris syndrome at Clinical Trials.gov Trial results on Coffin-Siris syndrome Clinical Trials on Coffin-Siris syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Coffin-Siris syndrome NICE Guidance on Coffin-Siris syndrome NHS PRODIGY Guidance FDA on Coffin-Siris syndrome CDC on Coffin-Siris syndrome
Books
Books on Coffin-Siris syndrome
News
Coffin-Siris syndrome in the news Be alerted to news on Coffin-Siris syndrome News trends on Coffin-Siris syndrome
Commentary
Blogs on Coffin-Siris syndrome
Definitions
Definitions of Coffin-Siris syndrome
Patient Resources / Community
Patient resources on Coffin-Siris syndrome Discussion groups on Coffin-Siris syndrome Patient Handouts on Coffin-Siris syndrome Directions to Hospitals Treating Coffin-Siris syndrome Risk calculators and risk factors for Coffin-Siris syndrome
Healthcare Provider Resources
Symptoms of Coffin-Siris syndrome Causes & Risk Factors for Coffin-Siris syndrome Diagnostic studies for Coffin-Siris syndrome Treatment of Coffin-Siris syndrome
Continuing Medical Education (CME)
CME Programs on Coffin-Siris syndrome
International
Coffin-Siris syndrome en Espanol Coffin-Siris syndrome en Francais
Business
Coffin-Siris syndrome in the Marketplace Patents on Coffin-Siris syndrome
Experimental / Informatics
List of terms related to Coffin-Siris syndrome

Coffin-Siris Sydrome is a rare genetic disorder which causes mental retardation and absent fifth finger and toe nails.

Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia.

Characteristics

• feeding difficulties upon birth
• frequent respiratory infections during infancy
• hypotonia
• joint laxity
• delayed bone age
• mental retardation
• short fifth digits with hypoplastic or absent nails
• microcephaly
• coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes

Causes

Autosomal recessive inheritance is the most likely, but sporadic mutations and autosomal dominant cases may also occur.

External Links

• Coffin-Siris syndrome on Orphanet
• WedMD Coffin Siris

Template:WS