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 March 2024
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Blepharophimosis-intellectual disability syndrome, SBBYS type?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.