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Nicolaides-Baraitser syndrome

Disease definition

A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.

ORPHA:3051

Classification level: Disorder
  • Synonym(s):
    • Intellectual disability-sparse hair-brachydactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 601358
  • UMLS: C1303073
  • MeSH: -
  • GARD: 270
  • MedDRA: -

Detailed information

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