Momo Syndrome

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OMIM 58 157980 ICD10 via Orphanet 35 Q87.3 UMLS via Orphanet 75 C1834759 Orphanet 60 ORPHA2563

MedGen 43 C1834759 SNOMED-CT via HPO 70 123983008 128602000 128613002 13649004 194021007 22006008 22066006 228156007 237836003 23986001 246545002 246800008 247487009 247578003 249321001 249685004 249690001 249752003 263681008 26825009 27272007 298724002 299462005 313307000 39302008 408856003 408857007 414915002 414916001 43614003 47944004 51744007 563001 5639000 65956007 707598004 84757009 90145001 91138005 91175000 95202004 95427009 more UMLS 74 C1834759

NIH Rare Diseases : ⁵⁴ 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. MOMO syndrome is very rare, with only about a dozen reported cases in the scientific literature. The exact cause of MOMO syndrome is unknown. One report has identified that the LINC00237 gene may be the cause of MOMO syndrome. 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. Treatment for the syndrome depends on the exact features that each person has.

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

Wikipedia : ⁷⁷ MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has... more...

Description from OMIM: 157980

Clinical features from OMIM:

157980

Search Clinical Trials , NIH Clinical Center for Momo Syndrome

Search GEO for disease gene expression data for Momo Syndrome.