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X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • ICD-11: LD90
  • OMIM: 300966
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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