Renal dysplasia-limb defects syndrome
Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome,[1] is a very rare[2] autosomal recessive congenital disorder.[3][4] It has been described in three infants, all of whom died shortly after birth.[5]
Characteristics[edit | edit source]
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.[5][6]
Genetics[edit | edit source]
RL syndrome is inherited in an autosomal recessive manner.[3] 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.
Diagnosis[edit | edit source]
This section is empty. You can help by adding to it. (August 2017) |
Treatment[edit | edit source]
This section is empty. You can help by adding to it. (August 2017) |
References[edit | edit source]
- ↑
- ↑ Disease ID 5394 at NIH's Office of Rare Diseases
- ↑ 3.0 3.1
- ↑ "RL syndrome at Wrongdiagnosis.com". Retrieved July 27, 2010.
- ↑ 5.0 5.1 "ORPHANET - About rare diseases - Ulbright-Hodes syndrome". Retrieved July 27, 2010.
- ↑ "ORPHANET - More on Ulbright-Hodes syndrome". Retrieved July 27, 2010.[dead link]
External links[edit | edit source]
Classification | |
---|---|
External resources |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
- All articles with dead external links
- Articles with dead external links from October 2010
- Articles with invalid date parameter in template
- Articles to be expanded from August 2017
- All articles to be expanded
- Articles with empty sections from August 2017
- All articles with empty sections
- Articles using small message boxes
- Autosomal recessive disorders
- Congenital disorders
- Rare syndromes
- Genetic disorders with OMIM but no gene
- All stub articles
- Genetic disorder stubs
Contributors: Prab R. Tumpati, MD