[The 18p-syndrome (author's transl)].
Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D004392:Dwarfism / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D008423:Maternal Age; D008831:Microcephaly / Q000175:diagnosis; D009123:Muscle Hypotonia / Q000175:diagnosis; D013577:Syndrome
Das 18p-Syndrom.