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

ORPHA:397973· ICD-10 Q87.8

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Neonatal