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Johnson Munson Syndrome

Johnson Munson Syndrome Definition

The Johnson Munson syndrome or aphalangy, urogenital-intestinal and hemivertibrae dysgenesis is a very rare syndrome which has been observed in only three siblings. It is associated with aplisia of the phalanges of the feet and hands or hypoplasia; hermivertibrea, and several other intestinal and/or urogenital defects. Intrafamiliar variability is highly important as one of the three siblings (a sister) had fatal defects (pulmonary hypoplasia and Potter syndrome). The other brother who was also sick with the syndrome was in great health and he had a normal development of his psychomotor skills at the sixth month of age.

Johnson Munson Syndrome Prognosis

The prognosis seems to depend greatly on the seriousness of the visceral defects. The etiology and inheritance of this disorder remain unknown.

Johnson Munson Syndrome Symptoms and Signs

The list of symptoms and signs for Johnson Munson syndrome consists of the following: hemivertebrae; lungs that are underdeveloped; visceral defects or malformations; ventricular septal abnormality; urogenital tract defects; abnormalities of the rectum; and missing toes or fingers.

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