Johnson Munson syndrome

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Aphalangy, hemivertebrae and urogenital-intestinal dysgenesis is an extremely rare syndrome, described only in three siblings. It associates hypoplasia or aplasia of phalanges of hands and feet, hemivertebrae and various urogenital and/or intestinal abnormalities. Intrafamilial variability is important as one sister had lethal abnormalities (Potter syndrome and pulmonary hypoplasia), while her affected brother was in good health with normal psychomotor development at 6 months of age. Prognosis seems to depend mainly on the severity of visceral malformations. Etiology and inheritance remain unknown.[1][2]

[edit] References

  1. ^ Rare Diseases Terms
  2. ^ Bruno Dallapiccola, Alessandro Castriota-Scanderbeg (2005). Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses . Springer, 188. ISBN 3540679979. 


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