Coffin Siris Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Coffin Siris Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Fifth Digit Syndrome
- Mental Retardation with Hypoplastic 5th Fingernails and Toenails
- Short Stature-Onychodysplasia
Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, and mental retardation. In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypoplastic) or absent nails; other malformations of the fingers and toes; and characteristic abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance. Craniofacial malformations may include an abnormally small head (microcephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes (hypertrichosis); and sparse scalp hair.
The underlying cause of Coffin-Siris syndrome is unknown. In most cases, the disorder is thought to result from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). Familial cases have also been reported that suggest autosomal dominant or autosomal recessive inheritance.
National Foundation for Ectodermal Dysplasias
410 East Main Street
PO Box 114
Mascoutah, IL 62258-0114
Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring, MD 20910
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html