Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?
Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by Váradi et al or a variant of the Mohr syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D005260:Female; D006222:Hamartoma / Q000235:genetics; D006228:Hand Deformities, Congenital; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014062:Tongue Neoplasms / Q000235:genetics; D014430:Twins, Monozygotic