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Craniodigital-intellectual disability syndrome

Disease definition

Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.

ORPHA:1514

Classification level: Disorder
  • Synonym(s):
    • Scott craniodigital syndrome
    • Scott-Bryant-Graham syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 312860
  • UMLS: C1839311
  • MeSH: -
  • GARD: 4776
  • MedDRA: -
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