A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis) that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies ureteral hypoplasias vesicoureteral reflux) abdominal well defects intestinal atresias and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
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