Blepharophimosis–Intellectual Disability Syndrome (BIDS)

Other names
Types
Causes
Common symptoms and signs
Diagnostic tests
Non-pharmacological treatments (therapies & others)
Drug treatments
Dietary molecular supplements
Drugs (immunity, regenerative, stem-cell context)
Surgeries (procedures and why they’re done)
Preventions
When to see doctors (red flags)
What to eat and what to avoid
FAQs

Blepharophimosis–Intellectual Disability Syndrome (BIDS) is a rare genetic condition. Children are born with blepharophimosis, which means the eye openings are shorter and narrower than usual. Many children also have ptosis (droopy eyelids) and epicanthus inversus (a skin fold that turns in toward the eye). Because the eyelids hang low and the openings are small, vision can be blocked. The syndrome also includes intellectual disability or global developmental delay. This affects learning, speech, and daily skills. Babies may have low muscle tone (hypotonia), feeding problems, and slow growth. Some children have distinct facial features, hearing loss, dental differences, joint laxity or tightness, heart defects, or genital differences. BIDS is most often caused by a new change (variant) in a gene that controls early development. A well-known cause is a variant in KAT6B, a gene that helps control how other genes turn on during growth. BIDS is usually autosomal dominant, meaning one changed copy of the gene is enough to cause the condition, but most cases happen de novo (the change is new in the child and not found in the parents).

Blepharophimosis–Intellectual Disability Syndromes (BIDS) are rare genetic conditions where a child is born with small eye openings and droopy upper eyelids. Many children also have global developmental delay (slow speech, learning, and motor skills) and intellectual disability. Other features can include hearing loss, dental problems, distinct facial shape, patella (kneecap) differences, genital differences, heart defects, low muscle tone (hypotonia), and sometimes short stature or thyroid problems. Doctors often group these under KAT6B-related disorders (including Ohdo syndrome, SBBYS variant, and genitopatellar syndrome) because many patients have changes in the KAT6B gene, which affects how DNA is packaged and how genes turn on or off. Diagnosis is clinical plus genetic testing; treatment is multidisciplinary and tailored to the child’s needs. ScienceDirect+4NCBI+4PubMed+4

Blepharophimosis–intellectual disability syndromes are a small group of very rare, inherited conditions. The main signs are narrow eye openings (blepharophimosis), droopy upper eyelids (ptosis), and lifelong learning or developmental problems (intellectual disability). Many children also have low muscle tone, feeding problems, hearing loss, dental problems, and special facial features. Some children have missing or under-developed kneecaps, joint problems, genital differences, heart defects, or short stature. These conditions are present from birth and usually stay for life. They are caused by changes (variants) in certain genes that guide early body and brain development. The best-known forms involve the KAT6B gene (SBBYSS variant and genitopatellar syndrome) and the UBE3B gene (blepharophimosis–ptosis–intellectual disability syndrome). Other rare forms exist and some do not yet have a known gene. Orpha+4NCBI+4PMC+4

Other names

Ohdo syndrome (Say–Barber–Biesecker–Young–Simpson type; SBBYS type)
KAT6B-related disorder
Blepharophimosis–ptosis–intellectual disability syndrome
Ohdo–SBBYS phenotype
Blepharophimosis syndrome with global developmental delay

(Note: “Ohdo syndrome” historically included more than one pattern. The SBBYS type is the subtype most strongly linked to KAT6B variants and the classic “blepharophimosis + intellectual disability” picture.)

Types

KAT6B-related BIDS (SBBYS type)
The most recognizable form. Children have blepharophimosis, ptosis, broad nasal bridge, full or everted lower lip, hypotonia, intellectual disability, and often speech delay. Some have hearing loss, heart defects, genital differences, and joint laxity or contractures. Eye problems can lead to amblyopia if not treated early.
BIDS within overlapping syndromes
A small number of children with blepharophimosis and intellectual disability have changes in other developmental genes (for example very rare reports with MED12-family or chromatin-regulator genes). The eye findings may be similar, but the full body pattern and severity can differ. Genetic testing helps tell these apart.
Chromosomal copy-number BIDS
Rarely, a small missing or extra piece of a chromosome (a microdeletion or microduplication) disrupts eye-lid development and brain development together. These children share the eyelid shape and learning challenges, but they often have additional birth differences based on the specific chromosomal region affected.

How doctors group these syndromes

KAT6B-related BIDS (the “Ohdo spectrum”)
Includes SBBYSS and Genitopatellar syndrome. There is a spectrum with intermediate cases. Core features are blepharophimosis/ptosis, distinctive face, hypotonia, developmental delay/intellectual disability, and skeletal or genital findings. NCBI+1
UBE3B-related BIDS (BPID / Kaufman oculocerebrofacial spectrum)
Very rare. Narrow eye openings, ptosis, global delay/intellectual disability, feeding issues, and brain and facial differences are common. PubMed
Ohdo/MKB type (X-linked)
Primarily males. Blepharophimosis, severe speech delay or absent speech, and global delay. The genetic cause is being refined. Orpha
Other very rare labeled types (e.g., Verloes type)
Named in older literature based on clusters of features; some remain gene-unknown. Wikipedia

Causes

Pathogenic variants in KAT6B
Changes in this gene disrupt a chromatin-modifying enzyme that turns other genes on at the right time in early development. This leads to the SBBYSS/GPS spectrum. Most are new (de novo) changes. NCBI+1
Pathogenic variants in UBE3B
Loss of function in this ubiquitin-ligase gene affects protein quality control in developing tissues, causing BPID. Usually inherited in an autosomal recessive pattern. PubMed
Undiscovered gene(s) in X-linked BIDS (MKB type)
Clinical pattern suggests an X-linked cause in boys, but the exact gene can be unknown or still under study in some families. Orpha
De novo mutation during egg or sperm formation
A fresh, random change can occur even when parents are healthy; this is common in KAT6B disorders. NCBI
Autosomal dominant inheritance
One altered KAT6B copy can cause disease; it may be inherited if a parent is affected, though many cases are de novo. NCBI
Autosomal recessive inheritance
Two altered copies (one from each parent) cause UBE3B-related BPID. Parents are typically healthy carriers. PubMed
X-linked inheritance
When the disease gene sits on the X chromosome, boys are usually more severely affected (MKB type). Orpha
Haploinsufficiency of KAT6B
Too little working KAT6B protein (because one copy is disabled) can impair gene regulation programs for face, eyes, brain, and skeleton. PMC
Protein-truncating variants in KAT6B
Nonsense/frameshift changes that shorten the protein are common and correlate with the spectrum of features. Nature
Missense variants in KAT6B
A single amino-acid change can alter enzyme activity and disrupt developmental gene networks. Nature
Chromatin remodeling disruption
KAT6B sits in histone-acetylation complexes; disturbance can mis-time gene expression in key tissues. PMC
Ubiquitin-pathway disruption (UBE3B)
Cells fail to mark proteins for recycling; development of eyes, brain, and face is affected. PubMed
Founder effects in small populations
Rare recessive variants (UBE3B) may cluster in extended families or regions. PubMed
Mosaicism in a parent
A clinically unaffected parent might carry the variant in some egg/sperm cells, increasing recurrence risk. NCBI
Epigenetic effects
Because KAT6B modifies histones, downstream epigenetic programs are altered. PMC
Gene-unknown BIDS variants
Some patients match the clinical picture but test negative on known genes, implying other genes. Orpha
Structural variants not caught on limited testing
Rare deletions/duplications around KAT6B/UBE3B may require exome/genome or CNV analysis. NCBI
Overlap diagnoses on the same spectrum
Intermediate KAT6B cases share features of SBBYSS and GPS; the same gene can give different “types.” NCBI
Consanguinity in recessive forms
When parents are related, the chance of two UBE3B variants is higher. PubMed
Stochastic developmental variation
Even with the same variant, severity can differ due to other genes and environment. gimjournal.org

Common symptoms and signs

Blepharophimosis (narrow eye openings)
The horizontal eyelid opening is short, giving a “small palpebral fissure” look. This is present from birth and is a core sign. It can reduce the visual field and contribute to amblyopia if not managed. Orpha
Ptosis (droopy upper eyelids)
The upper lids sit low and can cover the pupil. Children tilt the head back to see. Surgery may be needed to protect vision. Orpha
Distinctive facial features
Features can include broad nasal bridge, long philtrum, everted lower lip, and mask-like facies in some KAT6B cases. These help geneticists recognize the pattern. NCBI
Intellectual disability / developmental delay
Delays in sitting, crawling, walking, talking, and learning are common. Severity ranges from mild to severe. Early therapies help. gimjournal.org
Hypotonia (low muscle tone)
Babies feel “floppy,” tire easily, and have feeding or motor delays. Physiotherapy supports strength and posture. gimjournal.org
Hearing loss
Can be conductive or sensorineural. It worsens speech delay and learning if untreated. Hearing aids or other supports are often helpful. Orpha
Dental anomalies
Thin or under-developed tooth enamel and delayed tooth eruption can occur. Proactive dental care reduces caries risk. Orpha
Absent or small kneecaps (patellae)
Seen especially in KAT6B-related GPS/SBBYSS. This affects walking and stability. X-ray or ultrasound can confirm. Nature
Joint contractures or laxity
Some children have stiff, flexed joints (GPS). Others have hypermobility. Physiotherapy and orthotics can help function. Nature
Genital anomalies
Cryptorchidism in boys, scrotal hypoplasia, or other differences may be present. Surgical/urologic care is often needed. NCBI+1
Feeding difficulties and poor weight gain
Hypotonia and oral-motor discoordination may cause prolonged feeding time. Speech/feeding therapy supports safe feeding. gimjournal.org
Congenital heart defects (some cases)
Septal defects or other lesions can occur and need cardiology follow-up. gimjournal.org
Microcephaly or growth restriction (some cases)
Some children have small head size and short stature. This needs routine monitoring. NCBI
Vision problems
Amblyopia, strabismus, and refractive errors are common due to eyelid anatomy and eye alignment. Early eye care prevents vision loss. Orpha
Speech and language delay
Hearing loss, hypotonia, and neurodevelopmental differences all contribute. Early speech therapy improves outcomes. gimjournal.org

Diagnostic tests

A) Physical examination (bedside/clinical)

Detailed dysmorphology exam
A genetics-trained clinician assesses facial features, limb formation, joints, chest, spine, and genitalia. The pattern guides which gene to test first. NCBI
Ophthalmic measurements
Doctors measure horizontal palpebral fissure length, levator function, and margin-reflex distance. This confirms blepharophimosis/ptosis severity and informs surgery plans. NCBI
Hearing screen (bedside tools)
Bedside otoacoustic emissions or simple response checks flag who needs full audiology. Early detection protects language development. Orpha
Neurologic and developmental exam
Tone, reflexes, coordination, and developmental milestones are assessed to document hypotonia and delay. gimjournal.org
Cardiac exam
Auscultation for murmurs and signs of congenital heart disease directs echocardiography when indicated. gimjournal.org

B) Manual / functional assessments

Cover–uncover and alternate cover tests
These simple eye alignment tests check for strabismus that can cause amblyopia. NCBI
Visual acuity and refraction
Age-appropriate charts or preferential-looking tests measure acuity; cycloplegic refraction finds glasses needs. NCBI
Gross and fine motor scales
Tools like Bayley/Peabody track motor progress and the impact of hypotonia or joint issues. gimjournal.org
Speech-language evaluation
Formal testing identifies receptive and expressive language delays to plan therapy. gimjournal.org
Feeding and swallow assessment
Speech-language pathologists assess oral-motor control and safety, often with occupational therapy input. gimjournal.org

C) Laboratory / pathological testing

Molecular genetic testing for KAT6B
Single-gene sequencing or multigene panels for syndromic ptosis/ID detect pathogenic variants for SBBYSS/GPS. If negative, exome/genome testing is considered. NCBI
Molecular genetic testing for UBE3B
Sequencing and copy-number analysis confirm UBE3B-related BPID in recessive families or suggest carrier status in parents. PubMed
Chromosomal microarray (CMA)
Screens for pathogenic deletions/duplications when the phenotype is syndromic and the gene is not yet known. NCBI
Exome or genome sequencing
Useful when single-gene tests are negative or the presentation is atypical; finds rare or novel causes. NCBI
Baseline metabolic labs (select cases)
General labs can rule out treatable metabolic conditions in a child with global developmental delay. They do not diagnose BIDS directly but help the differential. gimjournal.org

D) Electrodiagnostic tests

Auditory brainstem response (ABR)
Objective test for hearing in infants/young children; confirms degree and type of hearing loss to guide early intervention. Orpha
Electroencephalogram (EEG)
If seizures or unusual spells occur, EEG helps categorize epilepsy and guide treatment. Seizures are variably reported across subtypes. gimjournal.org
Nerve conduction studies / EMG (select cases)
Used if neuromuscular weakness is suspected beyond hypotonia; usually not routine but may help complex cases. gimjournal.org

E) Imaging tests

Brain MRI
Looks for structural differences that may explain hypotonia, seizures, or developmental delay; patterns can support a syndromic diagnosis. gimjournal.org
Skeletal radiographs and targeted ultrasound
Knee imaging confirms absent/small patellae; spine/hip films assess contractures or alignment. Echocardiography checks for congenital heart disease. Renal ultrasound is used if anomalies are suspected. Nature

Non-pharmacological treatments (therapies & others)

Note: These are supportive options commonly used for BIDS or KAT6B-related disorders based on clinical guidance for syndromic developmental disability; individual plans vary after clinical assessment.

Early Intervention Program
Description: Early intervention is a set of services that start in infancy or as soon as delays are seen. It includes coordinated therapy plans to help motor, speech, social, and cognitive skills. Services typically involve home-based guidance, parent training, and center-based sessions. Starting early uses the brain’s natural ability to change (neuroplasticity) to build foundations for communication, movement, and daily living. It also supports caregivers in structuring routines, using simple language, and reinforcing skills across the day. Purpose: improve developmental skills and independence. Mechanism: repeated, structured practice strengthens brain pathways for speech, movement, attention, and behavior. NCBI
Speech–Language Therapy (including augmentative & alternative communication – AAC)
Description: Speech therapists work on sound production, understanding words, social communication, and feeding/oral-motor skills when needed. AAC (pictures, apps, devices) gives a voice when speech is limited. Purpose: improve communication, reduce frustration, support learning. Mechanism: systematic language input + motor speech practice + aided symbols build neural language networks and functional communication. NCBI
Occupational Therapy (OT)
Description: OT builds fine-motor skills (grasp, writing), self-care (feeding, dressing), sensory processing, and school skills using graded tasks. Purpose: independence in daily life. Mechanism: task-specific training + sensory-motor integration enhances cortical control and adaptive function. NCBI
Physical Therapy (PT)
Description: PT targets gross motor milestones (sitting, standing, walking), balance, posture, and endurance; hypotonia and joint differences are addressed with strengthening and gait training. Purpose: safer mobility and participation. Mechanism: progressive loading and repetition remodel motor pathways and muscle performance. NCBI
Vision Care & Low-Vision Supports
Description: Regular ophthalmology checks, refractive correction, patching for amblyopia when indicated, classroom seating, high-contrast materials, and lighting optimization. Purpose: protect and maximize vision despite eyelid anatomy. Mechanism: optical correction + amblyopia protocols improve visual input and cortical processing. NCBI
Hearing Services (audiology, hearing aids, classroom FM systems)
Description: Routine hearing screens; hearing aids or bone-anchored devices when loss is present; classroom microphones reduce background noise. Purpose: better access to speech and learning. Mechanism: amplification improves signal-to-noise ratio, supporting language development. PubMed
Feeding & Nutrition Therapy
Description: For oral-motor discoordination or reflux, a feeding therapist optimizes textures, pacing, and posture; dietitians ensure adequate calories and micronutrients. Purpose: safe growth and energy for therapy. Mechanism: compensatory strategies + nutritional planning reduce aspiration risk and support brain development. NCBI
Behavioral Therapy (parent-mediated, ABA-informed strategies)
Description: Structured routines, visual schedules, positive reinforcement, and functional behavior analysis reduce challenging behaviors and support attention. Purpose: improve learning and family quality of life. Mechanism: operant conditioning and skill-building reshape behavior patterns. NCBI
Educational Supports (IEP/individualized plan)
Description: Special education services individualize pace, literacy supports, AAC in class, and life-skills curricula. Purpose: maximize academic and functional progress. Mechanism: adapted instruction + assistive tech improves access to curriculum. NCBI
Sleep Hygiene Program
Description: Fixed bed/wake times, low-light pre-bed routine, noise control, and behavioral sleep plans address fragmented sleep often seen in neurodevelopmental disorders. Purpose: better daytime attention and behavior. Mechanism: conditioning circadian rhythms and reducing arousal triggers. NCBI
Cardiac Follow-up (when congenital heart disease is present)
Description: Pediatric cardiology surveillance, activity guidance. Purpose: detect and manage heart issues early. Mechanism: guideline-based monitoring reduces complications. NCBI
Endocrine Care (thyroid screening/management)
Description: Screen for hypothyroidism; treat per guidelines (see drug section for levothyroxine). Purpose: support growth and cognition. Mechanism: restoring thyroid hormone normalizes metabolism and brain function. PubMed
Dental & Orthodontic Care
Description: Early dental checks; enamel/dental hypoplasia needs preventive fluoride and restorations; orthodontics as indicated. Purpose: prevent caries and support speech/feeding. Mechanism: structural correction and hygiene reduce disease burden. rarediseases.org
Orthopedics/Physiatry (for patella/limb alignment issues)
Description: Bracing, orthotics, or surgery planning if patella is hypoplastic/absent. Purpose: safe mobility. Mechanism: mechanical alignment improves gait mechanics. PubMed
Genetics Counseling
Description: Explains inheritance, recurrence risk, and testing options for family planning. Purpose: informed decisions. Mechanism: risk communication and coordination of genetic testing. NCBI
Social Work & Family Support
Description: Helps families access therapies, schooling, respite care, and funding. Purpose: reduce caregiver stress, improve adherence. Mechanism: addressing social determinants improves outcomes. NCBI
Community-based Adaptive Sports & Recreation
Description: Inclusive physical activity improves fitness and social skills. Purpose: participation and confidence. Mechanism: repetitive motor practice + peer interaction. NCBI
Assistive Technology (switches, communication apps, adapted keyboards)
Description: Tailored tools for access to play, school, and communication. Purpose: independence and engagement. Mechanism: alternative input/output pathways bypass motor or language barriers. NCBI
Safety Planning (seizure first-aid education if applicable)
Description: Teach caregivers seizure recognition and safety steps; school care plans. Purpose: reduce injury risk. Mechanism: prepared response limits complications. NCBI
Regular Multidisciplinary Clinics
Description: Coordinated visits (genetics, neurodevelopment, ophthalmology, ENT/audiology, cardiology, endocrinology, PT/OT/SLP). Purpose: comprehensive, consistent care. Mechanism: team communication prevents gaps. NCBI

Drug treatments

Important safety note: There is no disease-modifying drug for BIDS. Medicines below are commonly used to treat associated issues (thyroid, seizures, reflux, behavior, spasticity, sleep). Doses are label-based general ranges and must be individualized by the treating clinician. U.S. labels are cited from accessdata.fda.gov where applicable.

Levothyroxine (thyroid hormone)
Class: Thyroid hormone. Typical pediatric dosing: individualized by weight and TSH/FT4 (e.g., ~4–6 mcg/kg/day in infants, lower per age), once daily on empty stomach. Timing: morning. Purpose: treat hypothyroidism that can occur in syndromic conditions. Mechanism: replaces T4 to normalize metabolism and brain development. Side effects: overtreatment can cause tachycardia, irritability; undertreatment leaves fatigue, poor growth. NCBI
Levetiracetam (for seizures)
Class: Antiseizure. Dose: often ~20–60 mg/kg/day in 2 doses (per label/clinician). Purpose: control seizures if present. Mechanism: modulates synaptic vesicle protein SV2A to reduce neuronal hyperexcitability. Side effects: somnolence, behavioral changes. NCBI
Valproate / Divalproex (for seizures; avoid in specific situations like pregnancy)
Class: Antiseizure. Dose: titrated to effect/levels; common total 10–60 mg/kg/day. Purpose: broad-spectrum seizure control. Mechanism: increases GABA, modulates sodium/calcium channels. Side effects: weight gain, tremor, liver toxicity risk, teratogenicity. NCBI
Topiramate
Class: Antiseizure. Dose: gradual titration; pediatric ~5–9 mg/kg/day divided. Purpose: seizure prophylaxis. Mechanism: blocks sodium channels, enhances GABA, inhibits AMPA/kainate. Side effects: cognitive slowing, paresthesia, weight loss. NCBI
Clonazepam (intermittent seizure/spasm, adjunct)
Class: Benzodiazepine antiseizure. Dose: small divided doses titrated per response. Purpose: reduce seizure clusters/tonic spasms. Mechanism: GABA-A agonism. Side effects: sedation, tolerance. NCBI
Baclofen (spasticity, if present)
Class: Antispasticity. Dose: start low, titrate (oral); intrathecal in select cases. Purpose: reduce tone-related discomfort. Mechanism: GABA-B receptor agonist reduces spinal reflexes. Side effects: drowsiness, weakness. NCBI
Omeprazole (reflux symptoms impacting feeding)
Class: Proton pump inhibitor. Dose: weight-based once daily; timing before meals. Purpose: reduce acid reflux that worsens feeding/oral aversion. Mechanism: blocks gastric H+/K+-ATPase. Side effects: headache, GI changes; long-term risks discussed by clinician. NCBI
Polyethylene Glycol (PEG 3350) (constipation)
Class: Osmotic laxative. Dose: weight-based; titrate to soft daily stool. Purpose: relieve constipation common in hypotonia/low mobility. Mechanism: holds water in stool to ease passage. Side effects: bloating, cramps. NCBI
Methylphenidate (attention/ADHD symptoms if present)
Class: CNS stimulant. Dose: titrated, short- or long-acting forms. Purpose: improve attention and on-task behavior. Mechanism: blocks dopamine/norepinephrine reuptake. Side effects: appetite loss, insomnia, BP changes. NCBI
Risperidone (irritability/severe behavior in neurodevelopmental disorders)
Class: Atypical antipsychotic. Dose: low dose titrated; FDA-labeled for irritability in autism; used off-label case-by-case. Purpose: reduce severe aggression/self-injury. Mechanism: dopamine/serotonin receptor modulation. Side effects: weight gain, metabolic changes, EPS. NCBI
Levocarnitine (if valproate-related carnitine depletion or metabolic concern)
Class: Nutrient/adjunct. Dose: per clinician (mg/kg/day). Purpose: support fatty-acid metabolism. Mechanism: replenishes carnitine stores. Side effects: GI upset, fishy odor. NCBI
Fluticasone (intranasal) (allergic rhinitis impacting sleep/feeding)
Class: Intranasal corticosteroid. Dose: once daily spray per age guidance. Purpose: relieve nasal obstruction that worsens sleep/feeding. Mechanism: anti-inflammatory action in nasal mucosa. Side effects: local irritation. NCBI
Cetirizine (allergic symptoms)
Class: Antihistamine. Dose: age-based once daily. Purpose: reduce itching/congestion. Mechanism: H1-receptor blockade. Side effects: drowsiness in some. NCBI
Hydroxypropylmethylcellulose/artificial tears
Class: Ocular lubricant. Dose: per ophthalmology. Purpose: protect cornea in exposure from ptosis/eyelid malposition pre- or post-surgery. Mechanism: tear film supplementation. Side effects: transient blur. NCBI
Amblyopia therapy drops (atropine) under ophthalmology
Class: Antimuscarinic (penalization therapy). Dose: per ophthalmologist. Purpose: treat amblyopia by blurring the strong eye. Mechanism: forces use of weaker eye. Side effects: light sensitivity, near-blur. NCBI
Iron supplementation (if iron deficiency)
Class: Nutritional supplement. Dose: mg/kg elemental iron per guidelines. Purpose: correct anemia that worsens fatigue/attention. Mechanism: restores hemoglobin/enzymes. Side effects: GI upset, dark stools. NCBI
Vitamin D (if deficient)
Class: Vitamin. Dose: per pediatric guidelines/levels. Purpose: bone health, muscle function. Mechanism: calcium/phosphate balance. Side effects: rare hypercalcemia if overdose. NCBI
Antibiotics (as indicated)
Class: Anti-infective. Dose: per infection/site. Purpose: treat ENT/respiratory infections that impair hearing/feeding. Mechanism: pathogen-specific. Side effects: vary by drug. NCBI
Acetaminophen/Ibuprofen (pain/fever management)
Class: Analgesic/antipyretic; NSAID. Dose: weight-based. Purpose: comfort and participation in therapy. Mechanism: central COX (acetaminophen), peripheral COX (ibuprofen). Side effects: liver risk (acetaminophen overdose), GI/renal (NSAIDs). NCBI
Saline nasal irrigation/sprays (supportive)
Class: Non-drug saline. Dose: as needed. Purpose: ease congestion to improve sleep/feeding. Mechanism: mucus clearance. Side effects: minimal if used correctly. NCBI

(Label-specific prescribing information for many of the medicines above, including dosing ranges and safety details, is available in U.S. FDA drug labels; clinicians consult the exact product label at accessdata.fda.gov when choosing and adjusting therapy.) NCBI

Dietary molecular supplements

Supplements should be used only after clinician review for safety, interactions, and lab-confirmed deficiencies.

Omega-3 fatty acids (DHA/EPA) – may support attention/behavior and cardiometabolic health; typical doses vary by product/weight. Mechanism: membrane fluidity, anti-inflammatory eicosanoids. NCBI
Vitamin D – replete deficiency to support bone/muscle; dose per 25-OH-D level. Mechanism: calcium/phosphate regulation. NCBI
Iron – treat iron deficiency anemia to improve energy and attention; dose mg/kg elemental iron. Mechanism: hemoproteins and neurotransmitter enzymes. NCBI
Zinc – if deficient and with poor growth/appetite; dose per pediatric guidance. Mechanism: cofactor in growth and immune enzymes. NCBI
Iodine – only if dietary deficiency; supports thyroid hormone synthesis. Mechanism: thyroid iodination. PubMed
Calcium – ensure adequate intake with vitamin D for bone health. Mechanism: bone mineralization. NCBI
Folate/B12 – correct documented deficiency influencing anemia/neurologic function. Mechanism: DNA synthesis and myelin. NCBI
Probiotics – for GI symptoms alongside diet change; strain-specific effects. Mechanism: microbiome modulation and barrier support. NCBI
Magnesium – if low and with constipation or cramps; monitor levels. Mechanism: smooth muscle/neuromuscular function. NCBI
Multivitamin – fills minor dietary gaps when intake is limited; avoid megadoses. Mechanism: broad micronutrient support. NCBI

Drugs (immunity, regenerative, stem-cell context)

There are no approved immune-booster or stem-cell drugs for BIDS. The options below are contextual and used only when there is a clear medical indication (e.g., deficiency or co-existing condition). They are not disease-modifying for BIDS.

Inactivated vaccines (per schedule) – critical for infection prevention; not a “drug,” but cornerstone immune protection. Dose: per national schedule. Function/Mechanism: antigen exposure → adaptive immunity. NCBI
Vitamin D – see above; supports immune modulation when deficient. Mechanism: VDR-mediated immune effects. NCBI
Iron – correct deficiency that impairs immune function. Mechanism: supports immune cell enzymes. NCBI
Levothyroxine – restores euthyroid state which normalizes growth and metabolic milieu; indirectly supports repair and development. Mechanism: thyroid hormone replacement. PubMed
Rehabilitation-linked biologic concept: None approved for “regeneration” in BIDS; experimental stem-cell therapies are not standard and should be avoided outside trials. Mechanism: not established in BIDS. NCBI
Nutritional repletion (protein/energy) – medical nutrition therapy rather than a drug; supports growth and tissue repair. Mechanism: provides substrates for anabolism. NCBI

Surgeries (procedures and why they’re done)

Ptosis Repair / Frontalis Sling
Procedure: tighten levator or suspend eyelid to frontalis muscle. Why: improve visual axis, prevent or treat amblyopia, and improve field of vision/appearance. NCBI
Canthoplasty / Medial Canthoplasty
Procedure: surgical reshaping to widen palpebral fissure or correct telecanthus depending on anatomy. Why: improve eyelid position and function. NCBI
Tear-film/Exposure Protection Procedures
Procedure: temporary tarsorrhaphy or procedures that improve eyelid closure if needed. Why: protect cornea from exposure keratopathy. NCBI
Cardiac Surgery (only if a structural heart defect is present)
Procedure: defect-specific repair by pediatric cardiac surgeons. Why: treat hemodynamically significant lesions and prevent complications. NCBI
Orthopedic Procedures (selected cases)
Procedure: patellar reconstruction or alignment surgery if severe. Why: improve mobility and function. PubMed

Preventions

Routine vaccinations to prevent severe infections. NCBI
Regular vision and hearing checks to catch problems early. NCBI+1
Dental hygiene and early dental visits to prevent caries in enamel/dental hypoplasia. rarediseases.org
Safe sleep routine to improve rest and daytime behavior. NCBI
Balanced diet with adequate iron, vitamin D, calcium per labs. NCBI
Therapy home-program practice to maintain skills between sessions. NCBI
Seizure safety education if seizures are present. NCBI
Cardiac/endocrine monitoring per specialist plan. NCBI
Avoid smoke exposure to reduce ENT/respiratory infections. NCBI
Genetic counseling for family planning and recurrence risk understanding. NCBI

When to see doctors (red flags)

Poor feeding, choking, or frequent pneumonia → pediatrician/feeding team. NCBI
Worsening vision (squinting, eye rubbing) or eyelids covering pupils → ophthalmology. NCBI
Hearing concerns (not responding to name, frequent ear infections) → audiology/ENT. PubMed
Seizures, staring spells, regression, or abnormal movements → neurology. NCBI
Breathing issues, cyanosis, fainting → cardiology/emergency care. NCBI
Constipation not responding to diet/PEG, poor growth → GI/dietitian. NCBI
Behavioral crises (aggression, self-injury) → developmental pediatrics/psych. NCBI
Fatigue, cold intolerance, growth plateau → endocrine/thyroid check. PubMed

What to eat and what to avoid

Eat/Include:

Iron-rich foods (meat, legumes, leafy greens) with vitamin-C foods for absorption. NCBI
Calcium + vitamin D sources (dairy/fortified alternatives, safe sunlight as advised). NCBI
Fiber (whole grains, fruits, vegetables) to help constipation. NCBI
Adequate protein at each meal for growth/repair. NCBI
Hydration (water) across the day. NCBI

Avoid/Limit:

Sugary drinks and ultra-processed snacks that displace nutrients. NCBI
Excess caffeine (sleep disruption). NCBI
Very hard or unsafe textures if oral-motor coordination is poor (follow feeding therapy texture plan). NCBI
High-acid foods before bedtime if reflux is an issue. NCBI
Unsupervised megadose supplements. Always check with the clinician first. NCBI

FAQs

Is BIDS one condition or many?
It is a group of rare conditions with similar features (small eye openings + developmental disability). Many now fall under KAT6B-related disorders (e.g., Ohdo/SBBYS variant). Genetic Rare Diseases Center+1
What causes it?
Often genetic changes (variants) in KAT6B, a gene that helps control how other genes turn on/off (chromatin regulation). Some cases remain unexplained. PubMed+1
How is it diagnosed?
By clinical exam plus genetic testing (exome/panel). Eye findings and developmental profile guide testing. NCBI
Will my child’s vision always be poor?
Vision can improve with glasses, amblyopia therapy, and eyelid surgery when indicated; early ophthalmology is key. NCBI
Can hearing be helped?
Yes. Audiology can fit hearing aids or other devices; classroom systems can help in school. PubMed
Is there a cure?
There is no cure, but therapies, surgery, and targeted treatments can greatly improve function and quality of life. NCBI
Do all children have heart defects or thyroid problems?
No. Features vary. Doctors screen for associated problems and treat if present. NCBI
What is the long-term outlook?
With early intervention, educational supports, and medical care, many children gain useful communication and daily-living skills. Prognosis depends on associated issues. NCBI
Is BIDS inherited?
Most reported KAT6B variants are de novo (new in the child), but genetics will discuss rare inherited patterns and recurrence risk. PubMed
Which specialists do we need?
A multidisciplinary team: genetics, ophthalmology, ENT/audiology, neurology, cardiology, endocrinology, PT/OT/SLP, dentistry, and education services. NCBI
Will my child need surgery for the eyelids?
Often yes if the lids block the pupil or cause amblyopia; timing depends on severity and vision. NCBI
Are stem-cell treatments available?
No approved stem-cell therapies for BIDS; avoid unproven treatments outside clinical trials. NCBI
What about behavior and sleep problems?
Behavioral programs (structured routines, visual schedules) and sleep hygiene help; sometimes medicines are used when needed. NCBI
Where can we read more?
Trusted overviews: GeneReviews (KAT6B disorders), NORD, Orphanet. NCBI+2rarediseases.org+2
Why do doctors keep repeating hearing/vision/thyroid tests?
Because issues may appear later; regular screening catches problems early when treatment works best. NCBI

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

Last Updated: October 28, 2025.

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