Johnson–Munson syndrome

Aphalangy, hemivertebrae and urogenital-intestinal dysgenesis is an extremely rare syndrome, described only in three siblings.[1] 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 sequence 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.[2][3]

Johnson–Munson syndrome
Other namesAphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

References
  1. Johnson VP, Munson DP (Nov 1990). "A new syndrome of aphalangy, hemivertebrae, and urogenital-intestinal dysgenesis". Clin. Genet. 38 (5): 346–52. doi:10.1111/j.1399-0004.1990.tb03593.x. PMID 2282714.
  2. Johnson Munson syndrome at NIH's Office of Rare Diseases
  3. Bruno Dallapiccola; Alessandro Castriota-Scanderbeg (2005). Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses. Springer. p. 188. ISBN 3-540-67997-9.
Classification
External resources


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