Definition:
Renal dysplasia mesomelia radiohumeral fusion, also called Ulbright Hodes, is an extremely rare syndrome characterized by abnormalities in kidney development and various defects in the arm bone.
Symptoms and Signs:
Common signs of renal dysplasia mesomelia radiohumeral fusion syndrome includes the following: abnormal kidney development, retarded growth, missing arm bones and leg bones, fused forearm bones, short arms, mesomelia, external genitalia deformities, rib anomalies, Potter-like facies, underdeveloped lungs, and respiratory distress, among others. Afflicted patients were described as having a beaked or broad nose, a high arched palate, a short neck, a small jaw, short stature, and clubfoot. In documented cases, infants with the syndrome all died shortly after birth.
Causes:
Renal dysplasia mesomelia radiohumeral fusion syndrome is a congenital syndrome passed via an autosomal recessive pattern of inheritance.
:
renaldysplasiamesomeliaradiohumeralfusion
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