Momo Syndrome

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OMIM 57 157980 Orphanet 59 ORPHA2563 UMLS via Orphanet 74 C1834759 ICD10 via Orphanet 34 Q87.3

MedGen 42 C1834759 SNOMED-CT via HPO 69 263681008 27272007 13649004 194021007 22006008 249321001 95427009 39302008 128602000 22066006 246800008 23986001 65956007 95202004 563001 51744007 5639000 47944004 707598004 408856003 408857007 43614003 298724002 26825009 249752003 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 414915002 414916001 247487009 299462005 90145001 123983008 237836003 249685004 249690001 more UMLS 73 C1834759

NIH Rare Diseases : ⁵³ 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
LINC00237 could play a role in the pathogenesis of this syndrome and could provide new insights into hyperphagia related obesity and intellectual disability
Dysfunction Pattern: Regulation). Affiliated tissues include eye, testes and bone, and related phenotypes are obesity and thick lower lip vermilion

Wikipedia : ⁷⁶ 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.