Living with Blepharophimosis - intellectual disability syndrome, SBBYS type
A rare genetic syndrome with a mask-like face, thyroid and skeleton differences, and delayed development.
Understanding Blepharophimosis - intellectual disability syndrome, SBBYS type
Signs can begin during pregnancy, at birth, or in infancy. The face can look mask-like, with narrow, droopy eyelids and tear duct differences. Other signs include extra fingers, long thumbs and big toes, low muscle tone, intellectual disability, and sometimes heart defects. Males often have kidney or genital differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Intellectual disability
- Small head (microcephaly)
- Heart defects
- Feeding difficulties and slow growth
- Thyroid in an unusual place
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in KAT6B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with KAT6A Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the KAT6B gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: blepharophimosis-intellectual deficit syndrome, say-barber/biesecker/young-simpson type; blepharophimosis-intellectual disability syndrome, sbbys type; blepharophimosis, intellectual disability syndrome, say-barber-biesecker-young-simpson type; hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome; mental retardation unusual facies hypothyroidism
Patient organizations
- KAT6A FoundationBlepharophimosis - intellectual disability syndrome, SBBYS type · United States
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