Rare Diseases Symptoms Automatic Extraction

A new case of MOMO syndrome.

[kabuki syndrome]

MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome.

Diseases presenting "obesity" symptom

  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cushing syndrome
  • cystinuria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • kabuki syndrome
  • monosomy 21
  • phenylketonuria
  • primary hyperoxaluria type 1
  • sneddon syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated