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blepharophimosis - intellectual disability syndrome, SBBYS type

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.
Uniprot Description A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech.
Disease Ontology Description A group of syndromes including Ohdo syndrome and Say Barber Biesecker Youn-Simpson syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0011365:  blepharophimosis - intellectual disability syndrome, SBBYS type
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)