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A new case of MOMO syndrome

Robert Wallerstein1, Rachel D Sugalski

  • 1Department of Pediatrics, Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack, University Medical Center, Hackensack, New Jersey, USA.

Clinical Dysmorphology
|December 10, 2009
PubMed

Insights

MOMO syndrome, characterized by macrosomia, obesity, macrocephaly, and ocular issues, is detailed in a new case. This report expands understanding of this rare genetic disorder and its clinical spectrum.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • MOMO syndrome is a rare genetic disorder characterized by macrosomia, obesity, macrocephaly, and ocular abnormalities.
  • Previous literature describes only three confirmed cases of MOMO syndrome.

Observation:

  • A 6-year-old child presented with features consistent with MOMO syndrome.
  • Additional findings included developmental delays, delayed bone age, clavicular pseudoarthrosis, and straight femurs.

Findings:

  • The patient's presentation strongly suggests MOMO syndrome, expanding the known clinical spectrum.
  • Facial features exhibited some overlap with Kabuki syndrome, highlighting diagnostic challenges.

Implications:

  • This case report contributes to a better understanding of MOMO syndrome's clinical variability.
  • Further research is needed to elucidate the genetic basis and long-term outcomes of MOMO syndrome.

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