Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome

Abstract

We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia. Chronic atopic dermatitis, lateral deviation of the great toes, and cone-shaped epiphyses of the toes were observed. The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described.

Obesity, genetics and the skin

“…MOMES (mental retardation, obesity, mandibular prognathism, eye and skin anomalies) syndrome is due to a very rare gene deletion or duplication, probably inherited in a recessive manner . The condition is typified by obesity with atopic eczema and a range of other syndromic features …”

Obesity syndrome, MOMES caused by deletion–duplication (4q35.1 del and 5p14.3 dup)

“…In a recent article in this journal, Kantaputra et al 2001 described two Thai sisters from unrelated parents with m ental retardation, o besity, m andibular prognathism, e ye and s kin anomalies. The acronym MOMES syndrome was suggested for this condition.…”

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

“…MOMO syndrome overlaps with MOMES syndrome (Mental retardation, Obesity, Mandibular prognathism, Eye and Skin abnormalities) [Kantaputra et al, 2001]. A unique combination of a 7 Mb 4q35.1‐4qter deletion and a 20 Mb 5p14.3‐5pter duplication contribute to the clinical features of MOMES syndrome [van Haelst et al, 2009].…”