Johnson Munson syndrome

Aphalangy, hemivertebrae and urogenital-intestinal dysgenesis is an extremely rare syndrome, described only in three siblings [cite journal | author = Johnson VP, Munson DP. | title = A new syndrome of aphalangy, hemivertebrae, and urogenital-intestinal dysgenesis., 1990 Nov | journal = Clin Genet. | volume = 38 | issue = 5 | pages = 346-52. | year = | pmid = 2282714 " [http://www.ncbi.nlm.nih.gov/pubmed/2282714?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum Abstract] "] . 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. [ [http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=3051 Rare Diseases Terms] ] [citebook|title=Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses |author=Bruno Dallapiccola, Alessandro Castriota-Scanderbeg|year=2005|publisher=Springer| pages=188|id=ISBN 3540679979|url=http://books.google.com/books?id=oG5Fn4Ucus4C&pg=PA188&ots=H8luIBoHXC&dq=Aphalangy&ie=ISO-8859-1&output=html&sig=M8vskoQK0HFm8mRaUh7VLEh8Kac]

References