Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Coffin Siris Syndrome


Synonyms of Coffin Siris Syndrome
  • Dwarfism-Onychodysplasia
  • Fifth Digit Syndrome
  • Mental Retardation with Hypoplastic 5th Fingernails and Toenails
  • Short Stature-Onychodysplasia

Disorder Subdivisions



    General Discussion
    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.
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    Organizations related to Coffin Siris Syndrome
    • Genetic and Rare Diseases (GARD) Information Center
      PO Box 8126
      Gaithersburg MD 20898-8126
      Phone #: 301-519-3194
      800 #: 888-205-2311
      e-mail: gardinfo@nih.gov
      Home page: http://www.genome.gov/10000409
    • NIH/National Institute of Child Health and Human Development
      31 Center Dr
      Bethesda MD 20892
      Phone #: 301-496-5133
      800 #: --
      e-mail: N/A
      Home page: http://www.nichd.nih.gov/
    • National Foundation for Ectodermal Dysplasias
      410 East Main Street
      Mascoutah IL 62258-0114
      Phone #: 618-566-2020
      800 #: --
      e-mail: info@nfed.org
      Home page: http://www.nfed.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/



    For a Complete Report

    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