Renal dysplasia-limb defects syndrome


Renal dysplasia-limb defects syndrome

Infobox_Disease
Name = Renal dysplasia-limb defects syndrome


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ICD10 =
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OMIM = 266910
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Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright Hodes syndrome is a very rare [RareDiseases|5394] syndrome. The syndrome has been described in three infants, all of whom died shortly after birth. [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3404 ORPHANET - About rare diseases - About orphan drugs ] ] It is a congenital syndrome [ [http://www.bdid.com/defectu.htm Birth Disorder Information Directory - U ] ] 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 among many others. [ [http://www.orpha.net/consor/cgi-bin/patsgn_data.php?PatId=3002&PatLbl=Ulbright+hodes+syndrome&Asb=Pat&PHPSESSID=3ad9f6172ad44e15a75ae9d10c3983bb ORPHANET - About rare diseases - About orphan drugs ] ]

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