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MOMO syndrome

Orpha number ORPHA2563
Synonym(s) Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.3
ICD-O -
OMIM
UMLS
  • C1834759
MeSH -
MedDRA -

Summary

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 broad forehead and delay in bone maturation in association with normal thyroid function and karyotype.


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