Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. Disease data Classification Malformation syndrome Synonyms Kawashima-Tsuji syndrome Zespół Kawashima i Tsuji Microcephaly-hearing loss-intellectual disability syndrome ORPHA code 2533 OMIM code 156620 ICD10 code Q87.8 ICD11 code LD2H.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl