Orphanet: Intellectual disability obesity prognathism eye and skin anomalies syndrome

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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: -

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

ORPHA:397973

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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