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

Orpha code: 397973OMIM code: 606772

Definicja

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
Klasyfikacja

Disease

Synonimy
MOMES syndrome
Zespół MOMES
Kod ORPHA
397973
Kod OMIM
606772
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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