Living with Blepharophimosis - intellectual disability syndrome, MKB type
A rare genetic syndrome seen only in males, with intellectual disability and distinct facial features.
Understanding Blepharophimosis - intellectual disability syndrome, MKB type
It has only been reported in males. Intellectual disability ranges from mild to severe, and motor skills like sitting and walking are delayed. Some people have behavior problems. Facial features include narrow eyelid openings, droopy eyelids, and a rounded nose tip, and become more pronounced with age. Other signs can include dental problems, low muscle tone, and hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Narrow eyelid openings (blepharophimosis)
- Low muscle tone in infants
- Prominent or bulbous nose
- Triangular face
- Coarse facial features
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 brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MED12 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
- 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 Simons Searchlight
- 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 MED12 gene cause this condition. It is inherited in an X-linked way.
Also known as: blepharophimosis-intellectual disability syndrome maat-kievit-brunner type; blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type; blepharophimosis-intellectual disability syndrome, mkb type; bmrs, maat-kievit-brunner type; bmrs, mkb type; ohdo syndrome, maat-kievit-brunner type
Patient organizations
- Simons SearchlightBlepharophimosis - intellectual disability syndrome, MKB type · United States
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