Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth. Disease data Klasyfikacja Malformation syndrome Synonimy Intellectual disability-sparse hair-brachydactyly syndrome Zespół Nicolaidesa i Baraitsera Kod ORPHA 3051 Kod OMIM 601358 Kod ICD10 Q87.1 Kod ICD11 - *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