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]

Renal dysplasia-limb defects syndrome
Other namesUlbright–Hodes syndrome
Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance.

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.[5][6]

Genetics

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

References
  1. Maruotti, G. M.; Agangi, A.; Napolitano, R.; Mazzarelli, L. L.; Quaglia, F.; Carbone, I. F.; d'Armiento, M. R.; Martinelli, P. (Mar 2009). "Prenatal diagnosis of Ulbright-Hodes syndrome". Journal of Ultrasound in Medicine. 28 (3): 385–388. doi:10.7863/jum.2009.28.3.385. PMID 19244077. S2CID 25896892.
  2. Disease ID 5394 at NIH's Office of Rare Diseases
  3. 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. 37 (1): 133–135. doi:10.1002/ajmg.1320370131. PMID 2240030.
  4. "RL syndrome at Wrongdiagnosis.com". Retrieved July 27, 2010.
  5. "ORPHANET - About rare diseases - Ulbright-Hodes syndrome". Retrieved July 27, 2010.
  6. "ORPHANET - More on Ulbright-Hodes syndrome". Retrieved July 27, 2010.


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