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Lamb-Shaffer syndrome

Disease definition

A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.


Classification level: Disorder
  • Synonym(s):
    • SOX5 haploinsufficiency syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy
  • ICD-10: Q87.8
  • OMIM: 616803
  • UMLS: C4225202
  • MeSH: -
  • GARD: -
  • MedDRA: -
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