Blepharophimosis-intellectual disability syndrome, SBBYS type

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Blepharophimosis-intellectual disability syndrome, SBBYS type

Synonyms: Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome | SBBYS variant of Ohdo syndrome | SBBYSS | Say-Barber-Biesecker-Young-Simpson syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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