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Seckel Syndrome

Abstract

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Synonyms of Seckel Syndrome

  • Bird-Headed Dwarfism, Seckel Type
  • Microcephalic Primordial Dwarfism
  • Nanocephalic Dwarfism
  • SCKL
  • Seckel Type Dwarfism
  • Seckel Type Primordial Dwarfism

Disorder Subdivisions

  • Seckel Syndrome 1, SCKL1
  • Seckel Syndrome 2, SCKL2
  • Seckel Syndrome 3, SCKL3

General Discussion

Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth (intrauterine growth retardation) resulting in low birth weight. Growth delays continue after birth (postnatal), resulting in short stature (dwarfism). Other symptoms and physical features associated with Seckel syndrome include an abnormally small head (microcephaly); varying degrees of mental retardation; and/or unusual characteristic facial features including "beak-like" protrusion of the nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw (micrognathia). In addition, some affected infants may exhibit permanent fixation of the fifth fingers in a bent position (clinodactyly), malformation (dysplasia) of the hips, dislocation of a bone in the forearm (radial dislocation), and/or other physical abnormalities.

Seckel Syndrome Resources

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, mental retardation, etc.].)

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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