Renal dysplasia-limb defects syndrome
- Renal dysplasia-limb defects syndrome
Infobox_Disease
Name = Renal dysplasia-limb defects syndrome
Caption =
DiseasesDB =
ICD10 =
ICD9 =
ICDO =
OMIM = 266910
MedlinePlus =
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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
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