Renal dysplasia-limb defects syndrome

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Renal dysplasia-limb defects syndrome
Classification and external resources
OMIM 266910

Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright Hodes syndrome is a very rare[1] syndrome. The syndrome has been described in three infants, all of whom died shortly after birth.[2] It is a congenital syndrome[3] and is believed to follow a autosomal recessive pattern of inheritance.


The syndrome is characterised 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[2] among many others.[4]


Renal dysplasia-limb defects syndrome has an autosomal recessive pattern of inheritance.
Renal dysplasia-limb defects syndrome has an autosomal recessive pattern of inheritance.


[edit] References

  1. ^ Disease ID 5394 at NIH's Office of Rare Diseases
  2. ^ a b ORPHANET - About rare diseases - About orphan drugs
  3. ^ Birth Disorder Information Directory - U
  4. ^ ORPHANET - About rare diseases - About orphan drugs
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