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Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

Disease definition

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.

ORPHA:397973

Classification level: Disorder
  • Synonym(s):
    • MOMES syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 606772
  • UMLS: C1847522
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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