Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. Disease data Classification Malformation syndrome Synonyms Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome Zespół Thonga, Douglasa i Ferrante Thong-Douglas-Ferrante syndrome ORPHA code 2866 OMIM code - ICD10 code Q87.1 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