Blepharophimosis-intellectual disability syndrome, SBBYS type
Engelsk navn: Blepharophimosis-intellectual disability syndrome, SBBYS type
Engelske synonym: Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome,SBBYS variant of Ohdo syndrome,SBBYSS,Say-Barber-Biesecker-Young-Simpson syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 3047
Klassifiseringsnivå: Disorder
ICD-10: Q87.8
