Blepharophimosis–Intellectual Disability Syndrome, Maat-Kievit-Brunner Type

Blepharophimosis–intellectual disability syndrome, Maat-Kievit-Brunner type (often shortened to “MKB type”) is a very rare genetic condition. Children have narrow eye openings (blepharophimosis) and droopy upper eyelids (ptosis). They also have learning and developmental problems that range from mild to severe. MKB type mainly affects boys and follows an X-linked pattern of inheritance. The main known cause is a change (mutation) in a gene called MED12, which helps control how many other genes turn on and off during early development. Because MED12 is important for brain, face, and body development, changes in this gene can lead to the mix of facial features, growth, behavior, and developmental issues seen in this syndrome. MedlinePlus+2MedlinePlus+2

Blepharophimosis–Intellectual Disability Syndrome, Maat-Kievit-Brunner type (also called X-linked Ohdo syndrome) is a very rare, inherited developmental disorder. Children—almost always boys—have narrow eye openings (blepharophimosis), droopy eyelids (ptosis), a coarse or triangular facial appearance, and learning and developmental delays. Muscle tone may be low, and some children have dental problems, hearing loss, or urogenital differences. The condition is caused by changes (variants) in the MED12 gene on the X chromosome; it is typically X-linked recessive, which explains the male predominance. There is currently no disease-modifying drug; care focuses on early therapies, symptom control, and family support. Orpha+3MedlinePlus+3MedlinePlus+3

The MED12 gene helps the cell’s “gene-switching” machinery work properly during early development. Pathogenic variants in MED12 disrupt this control, which leads to the facial features and neurodevelopmental differences seen in MKB-type Ohdo syndrome. Because the gene sits on the X chromosome, males (who have one X) are usually affected, while females (two X’s) are usually not or may be mildly affected carriers. MedlinePlus+1

Other names

Doctors and databases may use several names for the same disorder. Common alternatives include:

• Ohdo syndrome, Maat-Kievit-Brunner type

• X-linked Ohdo syndrome

• Blepharophimosis–mental retardation syndrome (BMRS), MKB type (older term)

All of these labels refer to the same MKB subtype within the “blepharophimosis–intellectual disability syndromes.” MedlinePlus+1

---

Types

“Blepharophimosis–intellectual disability syndromes” are a small group of genetic conditions that share narrow eye openings, ptosis, and developmental/learning problems. Within this group are different subtypes caused by different genes:

• MKB type (this article): X-linked, usually boys affected; caused by MED12 variants. PMC

• SBBYS type (Say–Barber–Biesecker–Young–Simpson): usually due to KAT6B variants; includes blepharophimosis plus limb/skeletal and other features. Orpha+1

• Genitopatellar syndrome: another KAT6B-related disorder with overlapping features. PMC+1

Knowing the subtype matters because the gene, inheritance, and some expected health concerns differ. Wikipedia

---

Causes

Primary cause: A disease-causing change (pathogenic variant) in MED12 on the X chromosome. In boys (who have one X), one altered copy is enough to cause the condition. Girls (two X chromosomes) are usually healthy carriers, though rare affected females have been reported. The MED12 protein is part of the Mediator complex, which links transcription factors to RNA polymerase II to turn thousands of genes on and off. When MED12 is altered, early brain, face, eye-lid, and body development can be disrupted, leading to the clinical features of MKB type. MedlinePlus+1

Inheritance: Typically X-linked recessive, explaining the strong male predominance reported in case series and databases. MedlinePlus+1

What science is learning about mechanisms (why the features happen):

1. Disrupted gene regulation in early brain development (Mediator dysfunction impairs neuronal maturation and connectivity). MedlinePlus+1

2. Abnormal craniofacial patterning during fetal growth, which contributes to blepharophimosis, ptosis, and midface changes. PMC

3. Effects on signaling pathways (e.g., SHH and others) controlled by Mediator components, which can influence eye, palate, limb, and genital formation. PMC

These are not separate “causes,” but likely biological routes by which MED12 variants create the MKB phenotype. MedlinePlus

---

Common symptoms and signs

1. Narrow eye openings (blepharophimosis): Eyes appear shorter horizontally; children may squint or tilt their head to see better. Orpha

2. Droopy upper eyelids (ptosis): Heavy lids can partly cover the pupils and may need surgical correction to prevent vision problems. Orpha

3. Global developmental delay: Sitting, standing, walking, and talking happen later than in peers; severity varies. MedlinePlus

4. Intellectual disability: Ranges from mild to severe; learning support and therapies are essential. MedlinePlus

5. Little or no speech in some boys: Some children communicate better with signs, pictures, or devices. Orpha

6. Behavioral differences (including autistic features): Challenges with social interaction, routine changes, or repetitive behaviors can occur. Orpha

7. Distinctive facial features: Bulbous nasal tip, long philtrum, full cheeks, and a triangular face that becomes more noticeable with age. Orpha+1

8. Hearing loss: Can be present and may need hearing aids and speech-language therapy. MedlinePlus

9. Low muscle tone (hypotonia): Babies feel “floppy,” which contributes to motor delay and feeding issues. MedlinePlus

10. Dental anomalies: Such as delayed eruption or abnormal tooth shape; regular dental care is important. MedlinePlus

11. Urogenital differences in boys: Micropenis, undescended testes (cryptorchidism), small scrotum; urology input is common. Orpha

12. Small head size (microcephaly) in some: Growth of the head may be below average percentiles. Genetic Rare Diseases Center

13. Joint hyperextensibility: Extra flexibility can coexist with low muscle tone. Nature

14. Feeding difficulties in infancy: Weak suck or coordination issues can lead to poor weight gain; feeding therapy may help. Nature

15. Occasional hearing/ear and dental problems together: Clustering of ear, tooth, and midface issues is part of the syndrome’s pattern. NCBI

---

Diagnostic tests

A) Physical examination (at the bedside)

1. Detailed dysmorphology exam: A clinical geneticist documents facial measurements (eye fissure length, palpebral fissures), eyelid position, philtrum length, and other features to recognize the MKB pattern. PMC+1

2. Neurologic and tone assessment: Checks for hypotonia, motor milestones, reflexes, and coordination to grade developmental delay. MedlinePlus

3. Growth charting (including head circumference): Tracks height, weight, and head size over time to identify microcephaly or growth faltering. Genetic Rare Diseases Center

4. Genital exam in boys: Looks for micropenis, cryptorchidism, and scrotal hypoplasia, which are common in MKB. Orpha

5. Ophthalmic slit-lamp and eyelid assessment: Measures ptosis severity and eyelid excursion to guide decisions on lifting surgery. Orpha

B) Manual/bedside functional tests

6. Developmental screening tools (e.g., Bayley, Denver-II): Standardized play-based tasks to quantify delays and plan early interventions. MedlinePlus

7. Hearing screening (otoacoustic emissions): A quick, non-invasive bedside check to flag possible hearing loss for full audiology testing. MedlinePlus

8. Vision screening and fixation tracking: Simple clinic tests to see if ptosis or refractive errors are limiting sight. MedlinePlus

9. Feeding/swallow evaluation at bedside: Assesses suck-swallow-breathe coordination to prevent aspiration and improve nutrition. Nature

10. Joint laxity/hyperextension maneuvers: Helps document connective-tissue laxity that may affect motor skills and therapy planning. Nature

C) Laboratory and pathological/genetic tests

11. Targeted MED12 gene sequencing: The key diagnostic test; identifies a pathogenic variant that confirms MKB type. PMC

12. Chromosomal microarray (CMA): Screens for larger deletions/duplications if sequencing is negative or features are atypical. Nature

13. Whole-exome or genome sequencing: Broad testing when the clinical picture is unclear or to detect rare/novel MED12 variants. mdpi.com

14. Carrier testing for mothers and female relatives: Looks for the family’s MED12 variant to inform recurrence risk. MedlinePlus

15. Metabolic screening (as needed): Basic labs (thyroid, amino/organic acids) to rule out treatable metabolic causes if the phenotype is not classic. (Used judiciously when features do not fully match a known genetic syndrome.) Nature

D) Electrodiagnostic tests

16. Auditory brainstem response (ABR): Objective test of hearing pathways when behavioral audiometry is unreliable in young children. MedlinePlus

17. Electroencephalogram (EEG) if spells or regression occur: Seizures are not defining, but EEG helps evaluate events and guides therapy if needed. Nature

E) Imaging and organ-screening tests

18. Echocardiogram (as clinically indicated): Heart defects are more classic in KAT6B syndromes, but a one-time screen may be considered in syndromic presentations. NCBI

19. Renal and pelvic ultrasound in boys with genital anomalies: Checks for undescended testes, renal/urinary tract differences, or complications. Orpha

20. Brain MRI (case-by-case): Used if there is unusual neurologic exam, regression, or microcephaly to look for structural differences and help with care planning. Nature

Non-pharmacological treatments (therapies & others)

1. Early intervention program
   Description : An early, coordinated plan brings speech, occupational, physical, behavioral, and educational services under one umbrella, starting in infancy or as soon as delays are noticed. A team (pediatrician, geneticist, therapists, special-education teachers) meets regularly with the family, sets measurable goals, and tracks progress. Emphasis is on communication, motor skills, self-care, and social play. Services happen at home, clinics, or school, and adapt as the child grows. Purpose: Maximize development and independence; prevent secondary problems like contractures or behavioral escalation. Mechanism: Neuroplasticity—repeated, structured practice strengthens brain pathways for language, movement, and behavior; family coaching ensures practice happens all day, not just in therapy. Genetic Rare Diseases Center+1

2. Speech-language therapy (with AAC when needed)
   Description: A speech-language pathologist builds understanding and expression through play-based sessions, modeling words, gestures, pictures, or speech-generating devices. Purpose: Improve functional communication, reduce frustration, and support literacy. Mechanism: Systematic language input plus Augmentative & Alternative Communication (AAC) gives immediate ways to communicate while verbal speech develops; AAC does not block speech—studies show it can increase spoken language. ASHA+1

3. Occupational therapy (OT)
   Description: OT strengthens fine-motor skills (grasping, feeding, dressing), sensory processing, and daily living tasks. Adaptive utensils, writing tools, and environmental modifications are introduced. Purpose: Independence in self-care and school tasks. Mechanism: Task-specific practice and graded sensory input improve coordination and attention. Genetic Rare Diseases Center

4. Physical therapy (PT)
   Description: PT targets low muscle tone (hypotonia), balance, and endurance with core strengthening, gait training, and stretching. Purpose: Safer mobility, better participation in play and school PE. Mechanism: Repetition induces motor learning and prevents deconditioning and contractures. Genetic Rare Diseases Center

5. Behavioral therapy (e.g., ABA-informed strategies)
   Description: Structured routines, reinforcement, and visual schedules reduce challenging behaviors and build adaptive skills. Purpose: Improve attention, learning, and daily transitions. Mechanism: Behavior shaped by consistent consequences and clear cues; data-driven plans individualize supports. Genetic Rare Diseases Center

6. Educational supports / IEP
   Description: A school-based Individualized Education Program (IEP) sets academic, speech, OT/PT, and behavioral goals with accommodations (short instructions, visual supports, testing modifications). Purpose: Access curriculum and track progress. Mechanism: Differentiated instruction and related services matched to neurodevelopmental profile. Genetic Rare Diseases Center

7. Ophthalmology care & vision therapy aids
   Description: Regular eye exams to monitor blepharophimosis/ptosis, refractive errors, and amblyopia; patching or glasses as needed; low-vision strategies in class. Purpose: Protect vision until/after eyelid surgery. Mechanism: Correcting refractive error and preventing amblyopia maximizes visual input during critical periods. Orpha

8. Audiology & hearing support
   Description: Hearing tests (newborn and periodic); hearing aids or classroom FM systems if loss is present. Purpose: Ensure access to speech sounds for language learning. Mechanism: Amplification improves signal-to-noise ratio, supporting speech perception and brain language pathways. MedlinePlus

9. Feeding therapy & dental care
   Description: Address oral-motor weakness and texture issues; coordinate with pediatric dentist for enamel/dental anomalies. Purpose: Safe nutrition and oral health. Mechanism: Desensitization, oromotor exercises, and dental preventive care reduce cavities and mealtime stress. MedlinePlus

10. Sleep hygiene program
    Description: Consistent bedtime, light/dark control, calming routines, and limit screens before bed; consider low-risk supplements like melatonin only with clinician guidance. Purpose: Improve sleep onset and continuity. Mechanism: Strengthening circadian cues and behavioral associations; melatonin supports the body’s sleep timing when used appropriately. PubMed

11. Social-skills training
    Description: Small-group practice for turn-taking, shared attention, and friendship skills. Purpose: Better participation and peer relationships. Mechanism: Modeling + rehearsal in structured, supported settings. Genetic Rare Diseases Center

12. Caregiver coaching & respite
    Description: Training parents in communication, behavior strategies, safe lifting, and self-care, plus scheduled respite services. Purpose: Reduce caregiver burnout and improve follow-through at home. Mechanism: Empowering families increases treatment dose and consistency. Genetic Rare Diseases Center

13. Genetic counseling
    Description: Explains X-linked inheritance, carrier testing, and reproductive options. Purpose: Informed family planning and support for relatives. Mechanism: Risk assessment based on MED12 variant and family history. MedlinePlus

14. Urology and endocrinology follow-up (if anomalies)
    Description: Evaluate cryptorchidism, hypospadias, or hormonal concerns; plan surgical or hormonal care as indicated. Purpose: Protect fertility, urinary function, and puberty timing. Mechanism: Specialist protocols for congenital urogenital differences. Orpha

15. Orthotics & adaptive equipment
    Description: Ankle-foot orthoses, supportive seating, or walkers when hypotonia affects alignment. Purpose: Safer mobility and endurance. Mechanism: External support optimizes biomechanics and reduces energy cost. Genetic Rare Diseases Center

16. Vision-safe classroom accommodations
    Description: Preferential seating, enlarged print, and glare control while awaiting/after eye surgery. Purpose: Maximize visual access. Mechanism: Environmental changes reduce visual strain and missed information. Orpha

17. Hearing-safe classroom accommodations
    Description: Quiet seating, FM systems, captioned media. Purpose: Improve comprehension and reduce fatigue. Mechanism: Better signal-to-noise increases speech intelligibility. MedlinePlus

18. Community-based rehabilitation & inclusive recreation
    Description: Adaptive sports, music, and arts programs build skills and confidence. Purpose: Participation and mental health. Mechanism: Practice in natural settings generalizes therapy gains. Genetic Rare Diseases Center

19. Regular dental sealants and fluoride
    Description: Preventive dentistry tailored to enamel/dental issues. Purpose: Reduce caries risk. Mechanism: Sealants block pits/fissures; fluoride remineralizes enamel. MedlinePlus

20. Transition planning to adulthood
    Description: Start by early adolescence: vocational skills, guardianship, benefits, adult providers. Purpose: Smooth handoff to adult life. Mechanism: Stepwise goals aligned with strengths and supports. Genetic Rare Diseases Center

---

Drug treatments

Important: dosing is individualized; always prescribe with a clinician’s judgment and label guidance. These medicines treat symptoms often seen in MED12-related neurodevelopmental disorders (e.g., irritability in autism, ADHD, seizures, spasticity, anxiety/sleep issues). Citations below point to FDA labels.

1. Risperidone (RISPERDAL®) — irritability in autism
   Class: Atypical antipsychotic. Typical pediatric dosing: Start 0.25–0.5 mg/day; titrate cautiously (label ranges vary by weight). Time: Daily or divided. Purpose: Reduce aggression, self-injury, tantrums. Mechanism: Dopamine/serotonin receptor modulation. Side effects: Weight gain, sedation, prolactin elevation, movement disorders—monitor closely. FDA Access Data+1

2. Aripiprazole (ABILIFY® / aripiprazole oral film)
   Class: Atypical antipsychotic. Dose: Pediatric irritability in autism often 5–15 mg/day after 2 mg start per label. Purpose: Irritability, aggression. Mechanism: Dopamine D2 partial agonist/5-HT1A agonist. Side effects: Akathisia, weight changes, somnolence. FDA Access Data+2FDA Access Data+2

3. Methylphenidate ER (e.g., CONCERTA®, Ritalin LA®) — ADHD
   Class: CNS stimulant. Dose: Label provides multiple strengths; titrate to effect. Time: Once daily ER. Purpose: Improve attention/hyperactivity. Mechanism: Blocks reuptake of norepinephrine/dopamine. Side effects: Appetite loss, insomnia, BP/HR increases. FDA Access Data+2FDA Access Data+2

4. Guanfacine ER (INTUNIV®) — ADHD
   Class: α2A-adrenergic agonist. Dose: 1–4 mg once daily; titrate weekly. Purpose: Hyperactivity, impulsivity, tics, sleep onset. Mechanism: Prefrontal cortical signaling via α2A receptors. Side effects: Sedation, hypotension, bradycardia—tapers needed. FDA Access Data+1

5. Clonidine ER (KAPVAY®) — ADHD
   Class: α2-adrenergic agonist. Dose: Label-guided twice-daily ER titration. Purpose: Hyperactivity/impulsivity, sleep onset. Mechanism: Reduces noradrenergic tone. Side effects: Sedation, hypotension; do not stop abruptly. FDA Access Data

6. Atomoxetine (STRATTERA®) — ADHD (non-stimulant)
   Class: Selective norepinephrine reuptake inhibitor. Dose: Weight-based; given once or twice daily. Purpose: Inattention/hyperactivity when stimulants unsuitable. Mechanism: Increases synaptic norepinephrine. Side effects: GI upset, insomnia; boxed warning for suicidal ideation—monitor. FDA Access Data

7. Lisdexamfetamine (VYVANSE®) — ADHD
   Class: Prodrug stimulant (d-amphetamine). Dose: Once daily; multiple capsule strengths. Purpose: Attention and executive function. Mechanism: Releases catecholamines. Side effects: Appetite loss, insomnia; misuse potential. FDA Access Data

8. Mixed amphetamine salts ER (ADDERALL XR®) — ADHD
   Class: Stimulant. Dose: Once daily; labeled strengths 5–30 mg. Purpose: Attention/hyperactivity. Mechanism: Increases synaptic norepinephrine/dopamine. Side effects: BP/HR increases; boxed warning for abuse/dependence. FDA Access Data

9. Levetiracetam (KEPPRA®/XR) — seizures
   Class: Antiseizure. Dose: Weight-based; XR once daily for older patients. Purpose: Focal/generalized seizures. Mechanism: SV2A modulation. Side effects: Mood/behavior changes—monitor. FDA Access Data+1

10. Valproate (DEPAKOTE ER®) — seizures
    Class: Antiseizure. Dose: Individualized; careful monitoring. Purpose: Broad-spectrum seizure control. Mechanism: Increases GABA; multiple actions. Side effects: Weight gain, liver/pancreas toxicity; major pregnancy risks—avoid in females who could become pregnant unless no alternatives. FDA Access Data+1

11. Topiramate (TOPAMAX®) — seizures
    Class: Antiseizure. Dose: Slow titration to minimize cognitive side effects. Purpose: Focal/generalized seizures; LGS adjunct. Mechanism: Na+ channels, GABA, glutamate modulation. Side effects: Cognitive slowing, kidney stones, metabolic acidosis—check bicarbonate. FDA Access Data+1

12. Lamotrigine (LAMICTAL®) — seizures/mood
    Class: Antiseizure. Dose: Slow titration (rash risk). Purpose: Seizures; mood stabilization in older patients when appropriate. Mechanism: Na+ channel modulation. Side effects: Serious skin rashes (SJS/TEN) boxed warning—stop for rash. FDA Access Data

13. Diazepam rectal gel (DIASTAT®) — seizure clusters
    Class: Benzodiazepine. Dose: Weight-based intermittent rescue. Purpose: Abort seizure clusters outside hospital. Mechanism: Enhances GABA-A. Side effects: Sedation; caution with opioids. FDA Access Data

14. Diazepam (VALIUM®) — spasticity/anxiety (select cases)
    Class: Benzodiazepine. Dose: Lowest effective; short-term. Purpose: Muscle relaxation/anxiolysis. Mechanism: GABA-A modulation. Side effects: Sedation, dependence risk. FDA Access Data

15. Baclofen (oral or granules) — spasticity
    Class: GABA-B agonist muscle relaxant. Dose: Titrate slowly; divided doses. Purpose: Reduce tone, ease therapy. Mechanism: Inhibits spinal reflexes via GABA-B. Side effects: Drowsiness, hypotonia; taper to avoid withdrawal. FDA Access Data

16. Sertraline (ZOLOFT®) — anxiety/OCD in older patients
    Class: SSRI. Dose: Start low; titrate. Purpose: Manage anxiety that interferes with learning/sleep. Mechanism: Inhibits serotonin reuptake. Side effects: GI upset, activation; monitor for suicidality in youth (boxed warning). FDA Access Data

17. Clonidine ER (sleep-onset aid adjunct)
    Class: α2 agonist. Dose: Bedtime use per label (and daytime for ADHD). Purpose: Difficult sleep onset with hyperarousal. Mechanism: Lowers noradrenergic arousal. Side effects: Hypotension, daytime sleepiness. FDA Access Data

18. Guanfacine ER (sleep-friendly ADHD option)
    Class: α2A agonist. Dose: Evening dosing may help sleep; adjust slowly. Purpose: ADHD with insomnia. Mechanism: Prefrontal α2A effects. Side effects: Somnolence, BP effects—taper. FDA Access Data

19. Aripiprazole oral film (newer formulation)
    Class: Atypical antipsychotic (same molecule). Dose: Label-guided; useful for swallowing or adherence issues. Purpose: Irritability in autism. Mechanism/SE: As above. FDA Access Data

20. Topiramate sprinkle/alternative forms
    Class: Antiseizure. Dose: Sprinkle capsules aid feeding difficulties. Purpose: Facilitate adherence in children with oromotor issues. Mechanism/SE: As above; monitor bicarbonate. FDA Access Data

---

Dietary molecular supplements

Supplements do not treat the underlying gene change; they support general health or specific deficiencies.

1. Omega-3 (EPA/DHA)
   Description (≈150 words): Omega-3s are long-chain polyunsaturated fatty acids found in fish oils. In ADHD and neurodevelopmental conditions, meta-analyses show small but measurable benefits for attention and hyperactivity in some children, especially when baseline omega-3 status is low. Typical studied doses are 500–1,000 mg/day of combined EPA+DHA (often higher in research). Quality and EPA:DHA ratios vary. Dosage: As advised by clinician. Function/mechanism: Incorporation into neuronal membranes may improve synaptic signaling and reduce neuroinflammation. Monitor for GI upset and fishy aftertaste; interact with anticoagulants at high doses. PMC+1

2. Vitamin D
   Description: Important for bone, muscle, and neural health; deficiency is common. Dosage: Individualized to reach target 25-OH vitamin D per clinician (many guidelines use 600–1,000 IU/day maintenance in children, but test-guided). Function/mechanism: Hormone-like effects on gene transcription and calcium balance; correcting deficiency supports overall growth and function. Excess causes hypercalcemia—avoid megadoses. Office of Dietary Supplements

3. Iron (if ferritin is low)
   Description: Iron deficiency can worsen attention and sleep; treating deficiency may improve ADHD symptoms. Dosage: Based on ferritin and hemoglobin; clinician-prescribed elemental iron and duration. Function/mechanism: Restores dopamine synthesis and oxygen transport; improves restless sleep when deficiency present. Avoid excess—iron can be toxic. PMC+1

4. Zinc (if low)
   Description: Zinc participates in neurotransmission and immune function. Dosage: Only if deficiency or marginal status is documented; dose per age/label. Function/mechanism: May modestly improve ADHD symptoms in low-zinc states. Over-supplementation can cause copper deficiency—monitor. PMC+1

5. Magnesium (if low or cramps present)
   Description: Supports neuromuscular and neuronal function. Dosage: Age-appropriate Recommended Dietary Allowance (RDA) or clinician-guided replacement. Function/mechanism: Cofactor in hundreds of enzymatic reactions; correcting deficiency may reduce irritability and sleep issues in some children. Excess can cause diarrhea. Office of Dietary Supplements

6. Melatonin
   Description: A hormone regulating the sleep–wake cycle. Dosage: Pediatric dosing is individualized and should be supervised; many studies use 1–5 mg 30–60 min before bedtime. Function/mechanism: Strengthens circadian signal to fall asleep and stay asleep; helpful in neurodevelopmental disorders with sleep onset delay. Quality control varies—use reputable products. PubMed+1

7. Multivitamin/mineral (targeted)
   Description: If diet is restricted by sensory issues, a pediatric multivitamin can cover gaps. Dosage: Age-appropriate daily product. Function/mechanism: Replaces common shortfalls (iron, zinc, vitamin D) that may affect energy, sleep, and attention. Avoid duplicates with separate single-nutrient products. Office of Dietary Supplements

8. Probiotics (select cases)
   Description: May help constipation and gut discomfort common in neurodevelopmental conditions. Dosage: Strain-specific and time-limited trials. Function/mechanism: Modulate gut microbiota and motility; evidence for behavior is limited—use mainly for GI symptoms. Office of Dietary Supplements

9. Calcium (pair with vitamin D if diet poor)
   Description: Supports bones and teeth; consider if dairy intake is low. Dosage: Age-appropriate intake targets; don’t exceed upper limits. Function/mechanism: Structural mineralization; avoid excess which may cause constipation or kidney stones. Office of Dietary Supplements

10. Iodine (only if deficiency risk)
    Description: Essential for thyroid hormone and brain development; deficiency is uncommon where iodized salt is used. Dosage: Use diet first (iodized salt, dairy, fish); supplement only if advised. Function/mechanism: Supports normal growth and cognition; excess can trigger thyroid dysfunction. Office of Dietary Supplements

---

Immunity booster / regenerative / stem-cell drugs

At present, there are no FDA-approved “immunity-boosting,” regenerative, or stem-cell drugs for MKB-type Ohdo syndrome. Offering such products for this condition would be experimental or unproven. Management should focus on vaccines per schedule, nutrition, sleep, therapies, and targeted medicines for symptoms. Families should avoid any clinic promising stem-cell cures for genetic neurodevelopmental disorders outside properly approved trials. MedlinePlus+1

(If tone/spasticity is severe and refractory, clinicians sometimes use intrathecal baclofen pumps for spasticity—not disease-modifying. That remains a symptomatic option under specialist care.) FDA Access Data

---

Surgeries (procedures & why done)

1. Ptosis repair (levator advancement or frontalis sling)
   Procedure: Tighten/advance eyelid muscles or suspend lids to the forehead muscle using a sling. Why: Improve visual axis, reduce amblyopia risk, and improve field of view and social interaction. Orpha

2. Canthoplasty / eyelid fissure reconstruction
   Procedure: Enlarge horizontal eyelid opening to treat blepharophimosis. Why: Improve vision and appearance; facilitate later ptosis repair. Orpha

3. Strabismus surgery (if present)
   Procedure: Adjust extraocular muscles to straighten eyes. Why: Prevent amblyopia and improve binocular vision. Orpha

4. Lacrimal system procedures (if tearing/obstruction)
   Procedure: Probing or dacryocystorhinostomy. Why: Stop chronic tearing/infection that can blur vision. Orpha

5. Urogenital corrective surgery (case-by-case)
   Procedure: Orchidopexy, hypospadias repair as indicated. Why: Optimize urinary/sexual function and reduce malignancy risk in undescended testes. Orpha

---

Preventions

While you cannot prevent the gene change, you can prevent complications:

1. Genetic counseling for family planning and carrier testing. MedlinePlus

2. Timely eye care to prevent amblyopia. Orpha

3. Newborn/periodic hearing checks to avoid missed language input. MedlinePlus

4. Dental prevention (fluoride, sealants) to reduce caries. MedlinePlus

5. Vaccinations and routine pediatric care to prevent infections. Genetic Rare Diseases Center

6. Sleep hygiene to prevent behavior escalation and caregiver burnout. PubMed

7. Safe feeding strategies to prevent choking/aspiration. MedlinePlus

8. School accommodations to prevent academic failure and frustration. Genetic Rare Diseases Center

9. Physical activity & PT to prevent deconditioning and contractures. Genetic Rare Diseases Center

10. Caregiver support/respite to prevent family stress injuries and improve adherence. Genetic Rare Diseases Center

---

When to see a doctor (red flags)

See your pediatrician or specialist urgently for: rapidly worsening vision or persistent eye discharge; new seizures; regression in skills; severe sleep disruption not responding to routines; sudden behavior changes with self-injury; feeding refusal, choking, or weight loss; recurrent ear infections or suspected hearing loss; testicular issues (undescended testes); or any concern about medication side effects (e.g., rash on lamotrigine; abnormal movements or marked weight gain on antipsychotics). Routine visits with genetics, ophthalmology, audiology, therapy teams, and dentistry are also essential. FDA Access Data+2FDA Access Data+2

---

What to eat” and “what to avoid”

Eat: (1) balanced meals with fruits/vegetables, (2) protein at each meal for satiety, (3) iron-rich foods (meat/legumes) with vitamin C for absorption, (4) omega-3 fish twice weekly (or clinician-guided supplement), (5) dairy or calcium-fortified alternatives for bones, (6) fiber-rich carbs to ease constipation, (7) adequate fluids, (8) iodized salt in cooking (small amounts), (9) varied textures to expand tolerance, (10) regular mealtime routines. Avoid/limit: ultra-processed sugary snacks, excessive caffeine, choking-hazard foods (hard nuts, whole grapes) if chewing is weak, and unsupervised supplement megadoses or unproven “stem-cell” or “immune booster” products. Office of Dietary Supplements+2Office of Dietary Supplements+2

---

Frequently asked questions

1) Is MKB-type Ohdo syndrome the same as other “blepharophimosis–ID” syndromes?
No. “Blepharophimosis–intellectual disability syndromes” are a group; MKB type is the X-linked MED12 form and has its own pattern and inheritance. Genetic Rare Diseases Center+1

2) Why mostly boys?
Because the causal gene (MED12) is on the X chromosome and the condition is typically X-linked recessive. MedlinePlus

3) Is there a cure?
No disease-modifying therapy exists yet; comprehensive therapies and targeted meds can greatly improve function and quality of life. MedlinePlus

4) Can my child learn to communicate?
Yes. With speech therapy and AAC (pictures, devices), many children communicate effectively; AAC does not prevent speech. ASHA

5) Will eyelid surgery help?
Ptosis/blepharophimosis surgeries can improve the visual axis and reduce amblyopia risk; timing is individualized by ophthalmology. Orpha

6) Are seizures part of this condition?
Seizures are not universal but can occur across blepharophimosis–ID syndromes; standard antiseizure treatments are used when needed. Orpha

7) Are antipsychotics safe in children with autism-like irritability?
Risperidone and aripiprazole are FDA-approved for irritability in autism; benefits must be weighed against metabolic and neurologic side effects, with close monitoring. FDA Access Data+1

8) Which ADHD medicines are options?
Stimulants (methylphenidate, amphetamines) and non-stimulants (guanfacine ER, clonidine ER, atomoxetine) are evidence-based options; choice depends on symptoms, sleep, tics, and side effects. FDA Access Data+4FDA Access Data+4FDA Access Data+4

9) Is melatonin okay for sleep?
Under clinician guidance, melatonin can shorten sleep-onset latency in neurodevelopmental disorders; use reputable products and the lowest effective dose. PubMed

10) Do omega-3 supplements help?
They may provide small benefits for attention/hyperactivity in some children, particularly with low baseline omega-3; they are supportive, not curative. PMC

11) Should we test iron or zinc?
If diet is limited or ADHD-like symptoms and restless sleep are present, clinicians may check ferritin and zinc; replacing documented deficiencies can help. PMC+1

12) Are stem-cell therapies available?
No approved stem-cell or regenerative drugs exist for this condition; avoid unproven clinics. MedlinePlus

13) Can girls be affected?
Female carriers are usually unaffected or mild, but rare symptomatic females are reported with particular variants; a genetics team can advise. MedlinePlus

14) What is the long-term outlook?
Outcomes vary. With early therapies, vision care, communication support, and tailored schooling, many children gain meaningful skills and independence. MedlinePlus+1

15) Where can we learn more?
Reliable summaries: MedlinePlus Genetics, Orphanet, NIH GARD; your local genetics and ophthalmology teams can personalize the plan. MedlinePlus+2Orpha+2

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: October 28, 2025.