Momo Syndrome

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GARD: ¹⁹ MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of the syndrome instead of macrosomia, as macrosomia has not been reported in all affected individuals. The exact cause of MOMO syndrome is unknown. Both autosomal dominant and autosomal recessive inheritance patterns have been suggested. MOMO syndrome is diagnosed when a doctor observes signs consistent with the syndrome. Tests may be completed to rule out other genetic syndromes.

MalaCards based summary: Momo Syndrome, also known as macrocephaly-obesity-mental disability-ocular abnormalities syndrome, is related to smith-magenis syndrome and coloboma of macula. An important gene associated with Momo Syndrome is LINC00237 (Long Intergenic Non-Protein Coding RNA 237). Affiliated tissues include thyroid, bone and eye, and related phenotypes are obesity and macrocephaly

Orphanet: ⁵⁸ MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.

Wikipedia: ⁷⁵ MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Momo Syndrome