MCID: MMS001
MIFTS: 29
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Momo Syndrome
Categories:
Endocrine diseases, Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Momo Syndrome:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Metabolic diseases Anatomical: Endocrine diseases Neuronal diseases Mental diseases
ICD10:
32
Orphanet: 58
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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...
More information from OMIM:
157980
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Diseases related to Momo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 16)
Graphical network of the top 20 diseases related to Momo Syndrome:![]() |
Human phenotypes related to Momo Syndrome:58 30 (show all 48)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:157980 (Updated 08-Dec-2022) |
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Organs/tissues related to Momo Syndrome:
MalaCards :
Thyroid,
Bone,
Eye
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Articles related to Momo Syndrome:
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