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Skeletal dysplasia-epilepsy-short stature syndrome

Disease definition

A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.

ORPHA:1858

Classification level: Disorder
  • Synonym(s):
    • Gurrieri-Sammito-Bellussi syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.5
  • OMIM: 601187
  • UMLS: C0796046
  • MeSH: -
  • GARD: 350
  • MedDRA: -

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