Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Disease data Classification Malformation syndrome Synonyms Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Niedoczynność tarczycy- dysmorfia - polidaktylia pozaosiowa - niepełnosprawność intelektualna Zespół Say'a, Barbera, Bieseckera, Younga i Simpsona Zespół zwężenie szpary powiekowej-upośledzenie umysłowe typu zespołu Say'a, Barbera, Bieseckera, Younga i Simpsona SBBYS variant of Ohdo syndrome SBBYSS Say-Barber-Biesecker-Young-Simpson syndrome ORPHA code 3047 OMIM code 603736 ICD10 code Q87.8 ICD11 code - *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