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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: -

Summary

Epidemiology

Less than 10 cases have been described in the literature so far.

Clinical description

Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported.

Genetic counseling

Transmission appears to be autosomal or X-linked recessive.

- Last update: April 2008

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.