A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.
D000015:Abnormalities, Multiple; D001724:Birth Weight; D002648:Child; D002675:Child, Preschool; D003409:Congenital Hypothyroidism; D003638:Deafness / Q000151:congenital*; D004392:Dwarfism / Q000150:complications*; D004476:Ectodermal Dysplasia / Q000150:complications; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008286:Malabsorption Syndromes / Q000151:congenital*; D009666:Nose / Q000002:abnormalities*; D009667:Nose Deformities, Acquired; D014071:Tooth Abnormalities / Q000150:complications*