A syndrome of midface retraction, multiple radiological anomalies, renal malformations and hypertrichosis.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome