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Renal dysplasia-limb defects syndrome

Field	Value
name	Renal dysplasia-limb defects syndrome
synonyms	Ulbright–Hodes syndrome
image	Autosomal recessive - en.svg
caption	Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance.

Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder. It has been described in three infants, all of whom died shortly after birth.

Presentation

RL syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion (joining of radius and humerus), rib abnormalities, anomalies of the external genitalia and potter-like facies among many others.

Genetics

RL syndrome is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

(Mar 2009). "Prenatal diagnosis of Ulbright-Hodes syndrome". Journal of Ultrasound in Medicine.
{{RareDiseases. 5394
Schrander-Stumpel C, D. D. S. C.. (Sep 1990). "Limb reduction defects and renal dysplasia: Confirmation of a new, apparently lethal, autosomal recessive MCA syndrome". American Journal of Medical Genetics.
"RL syndrome at Wrongdiagnosis.com".
"ORPHANET - About rare diseases - Ulbright-Hodes syndrome".
(October 2010). "ORPHANET - More on Ulbright-Hodes syndrome".

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-recessive-disorders congenital-disorders rare-syndromes genetic-disorders-with-omim-but-no-gene

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