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

Orpha code: 397973OMIM code: 606772

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.

Disease data
Classification

Disease

Synonyms
MOMES syndrome
Zespół MOMES
ORPHA code
397973
OMIM code
606772
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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