Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome is a very rare, inherited condition reported only in a small number of people. It affects several body systems at once. The main signs are:
Hypogonadism (the sex glands do not make enough hormones, so puberty may be late or incomplete, and fertility can be reduced).
Short stature (height is much lower than average for age and sex).
Coloboma (a “gap” or cleft in the eye’s structure such as the iris, retina, choroid, or optic nerve, often visible as a keyhole-shaped pupil).
Preaxial polydactyly (an extra thumb or big toe on the “thumb/big-toe side” of the hand or foot).
Hypogonadism–Short Stature–Coloboma–Preaxial Polydactyly syndrome (Biemond syndrome type 2) is an ultra-rare, congenital (present at birth) disorder. The main features reported across the small published case summaries include: under-function of the sex glands (hypogonadism) leading to delayed puberty or infertility, short height, eye coloboma (a developmental “gap” in parts of the eye), and extra thumb-side digits of the hands or feet (preaxial polydactyly). Some descriptions also note learning difficulties, hydrocephalus, facial differences and obesity. Because only a handful of patients have ever been documented, the exact cause and inheritance are still uncertain, and care focuses on evaluating each feature and treating symptoms to preserve vision, function, growth, puberty and quality of life. Orpha.net+2Global Genes+2
Several better-known syndromes can overlap. For example, CHARGE syndrome also includes coloboma, hearing and heart differences; some isolated case reports even describe preaxial polydactyly with CHARGE, so careful genetics and clinical exam are key to avoid mislabeling. Bardet–Biedl can share polydactyly and hypogonadism but typically involves retinal degeneration and kidney disease. In Biemond type 2, kidney disease has not been a consistent feature in summary sources, and the phenotype remains poorly defined due to very few cases. MedlinePlus+2Lippincott Journals+2
A coloboma is a missing piece of eye tissue from incomplete closure during early development. It can affect the iris (visible notch), retina, choroid or optic nerve, with vision ranging from normal to severely reduced. There is no way to “replace” the missing tissue, so management aims to maximize remaining vision, protect the eye, and treat complications such as cataract or retinal detachment risk. National Eye Institute+1
Doctors first described closely related clusters of findings decades ago, and later grouped them under Biemond syndrome type 2. Only a handful of patients have been described in the medical literature, so doctors still consider the syndrome poorly defined, with features that can vary from person to person. In some reports, people also had learning difficulties, obesity, facial differences, or fluid on the brain (hydrocephalus). Because the number of cases is tiny, experts still debate whether all reported patients have the same condition or several overlapping conditions that look similar. MalaCards+3Orpha.net+3PubMed+3
Other names
Biemond syndrome type 2 (BS2)
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
Preaxial polydactyly-coloboma–short stature syndrome (descriptive label used in older case reports)
These names all point to the same “constellation” of findings described above. Orpha.net+1
Types
Because so few cases are known, formal “types” have not been firmly established. Clinicians sometimes describe presentations (phenotypes) rather than strict types:
Classic cluster: hypogonadism + short stature + coloboma + preaxial polydactyly.
Ocular-dominant: prominent coloboma with milder endocrine or growth problems.
Endocrine-dominant: pronounced hypogonadism/late puberty with subtle eye or limb findings.
Neurodevelopmental-enriched: added learning difficulties and tone/coordination issues.
Bardet-Biedl–like overlap: obesity, polydactyly, and genitourinary findings that resemble ciliopathies like Bardet-Biedl syndrome (BBS).
These “types” reflect how features can cluster rather than proven genetic subgroups. PubMed+1
Possible causes or contributing mechanisms
Because the exact gene for this specific syndrome has not yet been identified and inheritance is uncertain in many families, “causes” here means biologic mechanisms and developmental factors that may lead to the same set of findings, based on case reports and knowledge from related disorders. Orpha.net
Single-gene change (unknown gene): A mutation in a gene not yet discovered that affects eye, limb, growth, and endocrine development together. Orpha.net
Developmental pathway disruption: Errors in early embryo signaling pathways (e.g., SHH, GLI3, or related limb/eye patterning routes) can cause polydactyly and coloboma in other conditions; a similar pathway may be involved here.
Ciliopathy-like mechanism: Some patients resemble Bardet-Biedl syndrome, a ciliopathy; disturbed cilia function can affect eyes, limbs, growth, and hormones. Orpha.net
Optic fissure closure failure: Coloboma forms when the embryonic optic fissure fails to close completely.
Anterior-posterior limb patterning error: Extra digits on the thumb/big-toe side point to early limb patterning problems.
Hypothalamic-pituitary axis dysgenesis: If brain regions that control puberty and growth are under-developed, hypogonadism and short stature can result.
Primary gonadal under-function: Ovaries or testes may not produce enough hormones, leading to delayed puberty and fertility issues.
Growth hormone (GH)/IGF-1 axis imbalance: Low GH or reduced IGF-1 action can contribute to short stature.
Skeletal growth plate disturbance: Subtle cartilage/bone growth abnormalities can reduce final height.
Modifier genes: Variants in additional genes can make features more or less severe.
Epigenetic changes: Chemical “tags” on DNA can alter gene activity during development.
Mitochondrial energy stress (hypothesis): Developing tissues with high energy needs (eye, brain) may be vulnerable to energy deficits.
Vascular patterning issues in eye development: Abnormal early blood supply can worsen ocular clefts.
Mechanical constraints in utero (rare): Uncommon fetal environmental factors sometimes shape limb formation.
Nutritional or endocrine influences in pregnancy: Severe, early maternal endocrine disruptions can subtly affect fetal growth patterns.
Chromosomal microdeletions/duplications (to be excluded): Some syndromic coloboma–polydactyly pictures are due to copy-number changes; targeted testing helps rule these out.
Overlap with known genes (phenocopies): Genes like GLI3, SHH, MKS/BBS families can mimic part of the picture without being the same syndrome. Orpha.net
Pituitary stalk interruption or hypoplasia (to be excluded): Can cause hypogonadism and short stature but usually lacks polydactyly/coloboma. SpringerOpen
Sporadic (de novo) variants: A new mutation not present in parents may explain an isolated case.
Polygenic background: Many small genetic effects together may raise risk, with one main mutation tipping the balance.
Common symptoms and signs
Delayed or absent puberty: Breast/testicular growth and other puberty signs appear late or not at all due to low sex hormones.
Infertility or subfertility: Adults may struggle to conceive because eggs/sperm or hormone signals are insufficient.
Short stature: Final adult height is well below average; growth slows earlier than expected.
Coloboma (iris or fundus): A keyhole-shaped pupil or defects in retina/choroid/optic nerve can reduce vision or cause light sensitivity. Genetic Rare Diseases Center
Preaxial polydactyly (extra thumb/big toe): Often unilateral; may need surgery for function or shoe/hand fit. PubMed
Learning difficulties or intellectual disability: Ranges from mild to moderate in published cases. PubMed
Obesity (in some): Appetite/hormone control and low activity may contribute. PubMed
Facial differences: High forehead, broad nasal bridge, or other subtle features described in some patients. accessanesthesiology.mhmedical.com
Poor night or peripheral vision (if retinal coloboma): Missing retinal tissue can limit the visual field.
Strabismus or nystagmus: Eye misalignment or involuntary eye movements may occur in coloboma syndromes.
Genitourinary anomalies (some cases): Small testes/micropenis in males, menstrual irregularity in females. accessanesthesiology.mhmedical.com
Hydrocephalus (rarely reported): Fluid buildup can enlarge head size or cause headaches/vomiting. Global Genes
Coordination problems: Vision issues or mild cerebellar involvement can affect balance.
Hearing concerns (occasionally): Syndromic cases may include conductive or sensorineural loss; screening is prudent.
Psychosocial stress: Short stature, visual limits, and delayed puberty can affect self-esteem and social life.
Diagnostic tests
A) Physical examination
Complete growth and puberty check: Measure height/weight, body mass index, and Tanner stage to map growth and sexual development over time.
Eye exam at the slit lamp: The doctor looks for an iris “keyhole” and checks pupil shape, lens, and cornea.
Limb/hand/foot exam: Counts digits, notes whether the extra digit is on the thumb/big-toe side, and checks grip, range of motion, and shoe fit.
General dysmorphology review: Looks for facial features, body proportions, and any other clues that point to a genetic syndrome.
B) Manual/bedside tests
Visual acuity and field testing: Simple charts and field tests show how well each eye can see and how wide the visual field is.
Color vision testing: Identifies color-seeing problems that sometimes accompany retinal defects.
Puberty staging diaries/growth charts: Plotting height and puberty milestones over time helps reveal a pattern of delayed development.
Smell testing (optional): In some hypogonadism disorders, smell can be reduced; a quick smell test can be informative.
C) Laboratory and pathological tests
Gonadotropins (LH, FSH): Low levels suggest central hypogonadism; high levels suggest primary gonadal failure.
Sex hormones (testosterone/estradiol): Confirm low hormone production relative to age and sex.
Thyroid panel: Low thyroid hormones can worsen growth and puberty delay; check TSH and free T4.
Growth hormone axis tests (IGF-1 ± GH stimulation): Explore whether GH deficiency contributes to short stature.
General metabolic panel and fasting glucose/lipids: Screens obesity-related risks and overall health.
Genetic testing – chromosomal microarray: Looks for missing/extra DNA pieces that can mimic this syndrome.
Gene panel or exome/genome sequencing: Surveys many genes linked to coloboma, polydactyly, growth, and hypogonadism (e.g., BBS genes, GLI3, SHH) to rule out phenocopies and search for a causative variant. Orpha.net
Pathology of removed extra digit (if surgery): Confirms digit structure and looks for any unusual tissue that might alter future care.
D) Electrodiagnostic tests
Electroretinography (ERG): Measures retinal function; helpful when coloboma involves the retina or when night/peripheral vision is poor.
Visual evoked potentials (VEP): Assesses how well visual signals travel from eye to brain, useful if optic nerve coloboma is present.
E) Imaging tests
Dilated fundus photography/OCT: Pictures and cross-sections of the retina/map of the optic nerve help define the size and depth of a coloboma.
Hand/foot X-rays: Show bone structure, joint alignment, and surgical planning details for the extra digit.
Brain MRI (pituitary focus): Checks hypothalamus/pituitary when lab tests suggest central hypogonadism or GH deficiency; also screens for hydrocephalus. SpringerOpen
Renal ultrasound (as indicated): Some overlapping syndromes (e.g., BBS) have kidney anomalies; screening may be prudent. Orpha.net
Echocardiogram (as indicated): Some polydactyly-coloboma syndromes can include heart defects; a screening echo is considered if clinical clues exist.
Bone age X-ray (left hand/wrist): Compares skeletal maturity to chronological age to refine growth expectations.
Non-pharmacological treatments (therapies & other care)
Low-vision rehabilitation and protective eyewear
Description. An optometrist/ophthalmologist prescribes magnifiers, telescopes, high-contrast lighting, large-print materials and tinted lenses; polycarbonate (impact-resistant) glasses protect the good retina. Purpose. Maximize remaining vision for reading, school and independence; reduce injury risk. Mechanism. Optical devices enlarge images or improve contrast so remaining retinal cells receive stronger signals; protective lenses lower trauma risk. Note. Ongoing training helps children use tools well; accommodations at school are key. American Osteopathic Association+1Regular ophthalmology surveillance for coloboma complications
Description. Scheduled dilated eye exams monitor for cataract, retinal detachment, glaucoma, and refractive errors. Purpose. Detect and treat sight-threatening complications early. Mechanism. Early detection enables timely surgical repair (e.g., retinal detachment), laser, or medications for associated issues even though the coloboma itself cannot be “fixed.” Families are taught urgent warning signs like sudden floaters or shadows. PMC+1Iris coloboma cosmetic/photophobia management
Description. Colored contact lenses or iris suturing (in selected cases) can reduce glare and improve cosmesis. Purpose. Improve comfort and social confidence. Mechanism. Artificial iris coloration or surgical iris closure reduces excess light entering through the coloboma opening. Note. Candidacy is individualized by the ophthalmic surgeon. National Eye Institute+1Hand surgery for preaxial polydactyly (thumb duplication)
Description. Reconstruction aims to combine the best structures from each duplicate into one thumb with stable joints and good tendons; timing often 1–2 years of age. Purpose. Optimize pinch, grip and fine motor skills. Mechanism. Bone, tendon, ligament and skin procedures realign the thumb column; growth plates are preserved where possible. Follow-up. Hand therapy supports function. PMC+1Foot surgery for preaxial polydactyly
Description. Similar principles apply to big-toe duplication; corrections address alignment and prevent hallux varus. Purpose. Improve shoe wear, gait and comfort. Mechanism. Tendon balancing and osteotomy prevent inward drifting after extra ray removal. ScienceDirectEarly-intervention developmental therapies
Description. Speech-language, occupational and physical therapy start in infancy if delays are present. Purpose. Build communication, motor skills, self-care, and classroom readiness. Mechanism. Repetitive, goal-oriented training strengthens neuro-motor pathways and functional independence. Note. Individualized education plans (IEPs) ensure school supports. Genetic Rare Diseases CenterEndocrine evaluation with growth monitoring
Description. Regular height/weight velocity charting; labs for GH axis, thyroid, celiac screening; bone age. Purpose. Find treatable causes of poor growth. Mechanism. Standardized algorithms identify GH deficiency or IGF-1 deficiency, guiding therapy like somatropin or mecasermin where indicated. PubMedNutritional optimization
Description. Dietitian reviews protein, calcium, vitamin D, iron, zinc and omega-3 intake; reduces excess calories if obesity risk. Purpose. Support growth, bone mineralization, and cognition. Mechanism. Adequate micronutrients enable hormone and bone metabolism; omega-3s support neurodevelopment. Office of Dietary Supplements+1Pubertal induction planning (non-drug aspects)
Description. Family counseling on timing, sequence and expectations; psychosocial support. Purpose. Reduce anxiety and set realistic milestones before starting sex-steroid therapy. Mechanism. Education improves adherence and monitoring for side effects like blood-pressure changes with testosterone. FDA Access DataVision-safe classrooms and accessibility
Description. Seating near board, large-print or digital zoom, high-contrast handouts, glare control, and mobility training. Purpose. Equal learning access; prevent eye strain. Mechanism. Environmental changes boost usable vision and reduce fatigue. American Osteopathic AssociationGenetic counseling
Description. Even with uncertain inheritance, families benefit from review of recurrence risks, available testing panels, and differential diagnoses (e.g., CHARGE). Purpose. Informed family planning and accurate labeling. Mechanism. Clarifies what is known/unknown for this ultra-rare entity. Orpha.net+1Psychological support and peer resources
Description. Counseling for self-image (thumb/iris differences), anxiety, and learning challenges; linkage to rare-disease networks. Purpose. Improve resilience and family coping. Mechanism. Cognitive-behavioral strategies and community connection reduce isolation. Global GenesFall-prevention and home safety for low vision
Description. Lighting, contrast strips on stairs, clutter reduction. Purpose. Reduce injuries. Mechanism. Environmental modifications increase visual cues for navigation. American Osteopathic AssociationSun/UV protection
Description. Hats and UV-blocking lenses. Purpose. Less photophobia and retinal stress. Mechanism. Filters harmful wavelengths and glare through the colobomatous pupil. National Eye InstituteVaccination up to date
Description. Standard immunizations per national schedules. Purpose. Prevent infections that can slow growth or threaten vision. Mechanism. Immune priming reduces disease burden; no special vaccines are uniquely required for coloboma/polydactyly. AAP PublicationsCardiorespiratory screening if hydrocephalus or craniofacial issues noted
Description. Coordinate with neurosurgery or craniofacial teams when indicated. Purpose. Early treatment of raised intracranial pressure or airway issues. Mechanism. Multidisciplinary surveillance based on reported case features. Global GenesHearing screening
Description. Audiology evaluation in syndromic coloboma due to overlaps with conditions like CHARGE. Purpose. Identify treatable hearing loss impacting language. Mechanism. Objective otoacoustic/emission tests and behavioral audiometry guide amplification if needed. MedlinePlusDental/orthodontic evaluation
Description. Some syndromic growth patterns affect dentition and jaw alignment. Purpose. Optimize chewing, speech and cosmesis. Mechanism. Orthodontic appliances guide growth and occlusion. Genetic Rare Diseases CenterPhysical/occupational therapy after hand/foot surgery
Description. Strength, range of motion, fine-motor retraining. Purpose. Achieve stable pinch and gait. Mechanism. Neuromuscular practice and splinting where needed. PMCSchool and social inclusion planning
Description. Anti-bullying policies, disability accommodations, career counseling. Purpose. Long-term participation and well-being. Mechanism. Legal/educational frameworks ensure access and reduce secondary mental-health risks. American Osteopathic Association
Drug treatments
Important: Drugs below are evidence-based for components (hypogonadism, delayed puberty, short stature, IGF-1 deficiency). Dosing must be individualized by specialists. Labels evolve—check the current FDA label linked in each citation.
For male hypogonadism / delayed puberty (testosterone options):
Testosterone undecanoate (oral, Jatenzo®)
Class. Androgen. Typical dosing/time. Oral capsules with fatty meals, titrated based on serum testosterone. Purpose. Induce/maintain male secondary sexual characteristics and normal serum testosterone. Mechanism. Replaces endogenous testosterone, acting on androgen receptors in target tissues. Key cautions. Boxed warning for blood-pressure increases; contraindicated in prostate/breast cancer. Common effects. Acne, erythrocytosis, edema; monitor BP, hematocrit. FDA Access DataTestosterone undecanoate (oral, TLANDO®)
Class. Androgen. Use. Similar to Jatenzo; not substitutable milligram-for-milligram with other oral TU. Mechanism. Restores serum testosterone. Cautions. Boxed warning for BP increases; monitor cardiovascular risk factors. Effects. Headache, GI upset, hypertension possible. FDA Access Data+1Testosterone undecanoate (oral, KYZATREX®)
Class. Androgen. Use. Oral TU capsule, dose titrated by levels. Mechanism. As above. Cautions. Similar androgen risks; monitor BP, hematocrit, PSA as age-appropriate. FDA Access DataTestosterone undecanoate (IM, AVEED®)
Class. Long-acting IM androgen ester. Dosing. 750 mg IM at 0 and 4 weeks, then every 10 weeks (per label). Purpose. Long-term replacement when supervised. Cautions. Pulmonary oil microembolism (POME)/anaphylaxis risk; observe patients post-injection. FDA Access DataTestosterone cypionate (IM, Depo-Testosterone®)
Class. Androgen. Dosing. Typically every 1–4 weeks; adolescent induction uses lower, gradually escalating doses. Cautions. Polycythemia, BP rise, lipid changes; avoid in prostate/breast cancer. FDA Access DataTransdermal testosterone gel (AndroGel® 1%/1.62%)
Class. Androgen. Use. Daily skin application; careful to avoid secondary exposure to others. Cautions. Boxed warning—virilization in children from contact; wash hands, cover site. Monitoring. Testosterone levels, BP, hematocrit, PSA as appropriate. FDA Access Data+1Transdermal testosterone gel (Testim® 1%)
Class. Androgen. Notes. Similar to AndroGel; same secondary exposure warning; applied daily to shoulders/upper arms. Effects. Skin reactions, increased hematocrit; monitor. FDA Access Data+1Transdermal testosterone (Fortesta® gel)
Class. Androgen. Use. Metered doses to thighs; flammable until dry. Cautions. Secondary exposure, BP, hematocrit; avoid swimming/showering for 2+ hours post-application. FDA Access Data+1Intranasal testosterone (Natesto®)
Class. Androgen. Use. Multiple intranasal doses per day; pause during severe rhinitis. Purpose/Mechanism. Daily replacement via nasal absorption. Cautions. Nasal side effects; same androgen monitoring. FDA Access Data+1
For female hypogonadism / pubertal induction (specialist-guided):
Estradiol transdermal systems (Vivelle®/Vivelle-Dot®; other estradiol patches)
Class. Estrogen. Use. Start with very low doses, titrate slowly to mimic puberty; later add progesterone if uterus present to protect endometrium. Mechanism. Estrogen receptor activation drives secondary sex characteristics and bone accrual. Cautions. Use lowest effective dose; monitor BP, migraines, thrombosis risk. FDA Access Data+2FDA Access Data+2Oral micronized progesterone (Prometrium®)
Class. Progestin (bioidentical). Use. Added after sufficient estrogen exposure to induce cyclical bleeding and protect the endometrium. Mechanism. Progesterone transforms estrogen-primed endometrium and supports cyclicity. Cautions. Peanut-oil formulation; avoid with allergy. Sedation possible. FDA Access Data+1
For short stature (when criteria are met):
Somatropin (Norditropin®)
Class. Recombinant human growth hormone (rhGH). Use. Nightly SC injections for GH deficiency, certain syndromic short stature categories per label. Mechanism. Stimulates IGF-1, promoting linear growth, muscle and bone accrual. Cautions. Monitor for slipped capital femoral epiphysis, glucose changes, intracranial hypertension. FDA Access Data+1Somatropin (Genotropin®)
Class. rhGH. Use. Divided weekly SC dosing; specialist supervision required. Cautions. Similar class warnings; rotate sites, monitor growth velocity and IGF-1. FDA Access DataSomatropin (Omnitrope®)
Class. rhGH biosimilar. Use. Labeled for idiopathic short stature, Turner syndrome, SGA with failed catch-up, etc. Mechanism/Cautions. As above. FDA Access DataMecasermin (Increlex®)
Class. Recombinant human IGF-1. Use. For severe primary IGF-1 deficiency (not for GH deficiency). Mechanism. Replaces IGF-1 to drive growth at growth plates. Cautions. Hypoglycemia risk; give with meals; monitor tonsillar/adenoidal growth. FDA Access Data
Gonadotropin options (selected scenarios under endocrinology/andrology care):
Human chorionic gonadotropin (hCG; Pregnyl®, Novarel®)
Class. LH agonist. Use. Induce testosterone production or testicular descent protocols; later for fertility induction. Cautions. Can trigger premature puberty if overused in boys; fluid retention. FDA Access Data+1Menotropins (hMG; Menopur®)
Class. Mixed FSH/LH. Use. Assisted reproduction in women; in some male hypogonadotropic hypogonadism regimens with hCG to stimulate spermatogenesis. Cautions. Ovarian hyperstimulation in women; specialist protocols required. FDA Access Data+1Choriogonadotropin alfa (Ovidrel®)
Class. Recombinant hCG. Use. Trigger ovulation in women; part of assisted reproduction plans where appropriate. Mechanism. LH-like surge to mature follicles. FDA Access Data
Special pediatric endocrine modifiers (for specific problems, not general use):
Leuprolide acetate (GnRH agonist; Lupron Depot-Ped® / Fensolvi®)
Use. Treat central precocious puberty if it co-exists; not for hypogonadism. Purpose here. Only if premature puberty complicates growth or care. Cautions. Specialist dosing; discontinue at physiologic age. FDA Access Data+1Clinician-selected estrogen formulations for pubertal induction
Use. Low-dose oral/patch estradiol with gradual titration; later add progesterone if uterus present. Mechanism/Cautions. As in item 10; use lowest effective dose, monitor growth, bone health and menses pattern. FDA Access Data
Dietary molecular supplements
Vitamin D3 — Supports bone mineralization and immune function; many children/adults are low. Typical maintenance 600–1,000 IU/day for older children/adults (individualize to labs); avoid excess above upper limits unless prescribed. Office of Dietary Supplements+1
Calcium — Ensures substrate for bone growth during hormone therapy; aim for age-appropriate dietary intake; supplement if diet insufficient. Mechanism: supplies calcium ions for hydroxyapatite. Office of Dietary Supplements
Omega-3 (EPA/DHA) — May benefit neurodevelopment and general health; typical 250–1,000 mg/day combined EPA+DHA from diet/supplements unless otherwise directed; stay below 5 g/day from supplements. Office of Dietary Supplements+1
Lutein/Zeaxanthin — Macular carotenoids concentrate in retina and support visual function; obtained from leafy greens/eggs; supplements used in eye care. Doses vary (e.g., lutein 10 mg + zeaxanthin 2 mg/day in adult data). PMC
Vitamin A (avoid excess) — Essential for phototransduction and ocular surface health; rely mainly on food sources; supplement only if deficient due to toxicity risk. Office of Dietary Supplements
Zinc — Cofactor for growth and immune enzymes; meet RDA by age/sex; avoid exceeding ULs to prevent copper deficiency. Office of Dietary Supplements+1
Iron (if deficient) — Correct iron deficiency to support growth, cognition and exercise tolerance; dose per labs and weight under medical guidance. Office of Dietary Supplements+1
Vitamin B12 — Important for neurodevelopment; ensure adequate intake (2.4 µg/day adults; higher in pregnancy/lactation); supplement if dietary risk (e.g., vegan). Office of Dietary Supplements+1
Folate — DNA synthesis; ensure dietary sources or a standard multivitamin if intake is low; avoid mega-doses unless prescribed. Office of Dietary Supplements
General multivitamin/mineral (age-appropriate) — Useful safety net when varied diet is hard; keep within daily values to avoid toxicity. Office of Dietary Supplements
Immunity-booster / regenerative / stem-cell” drugs
There are no FDA-approved stem-cell drugs or “immunity boosters” specifically for Biemond type 2. In practice, clinicians use biologic or hormonal therapies that restore growth or puberty and standard vaccinations to prevent illness. Below are six evidence-based biologic/hormonal options relevant to growth/puberty that improve development or tissue function—not stem cells—and must be prescribed by specialists:
Somatropin (Norditropin®) — rhGH to normalize growth velocity in GH deficiency and labeled short-stature conditions; improves lean mass and bone accrual; monitor for rare adverse effects. FDA Access Data
Somatropin (Genotropin®) — Same class/mechanism; specialist dosing and monitoring. FDA Access Data
Somatropin (Omnitrope®) — Biosimilar rhGH for labeled pediatric short-stature indications. FDA Access Data
Mecasermin (Increlex®) — rhIGF-1 for severe primary IGF-1 deficiency; given with meals to prevent hypoglycemia. FDA Access Data
hCG (Pregnyl®/Novarel®) — LH-like biologic to stimulate testicular testosterone production in hypogonadotropic males under specialist care. FDA Access Data+1
Estradiol transdermal systems — Physiologic pubertal induction in girls with hypogonadism, aiding bone mineralization and sexual development (add progesterone later if uterus present). FDA Access Data
Surgeries (procedures & why they’re done)
Thumb duplication reconstruction — Combines best elements from duplicated thumbs to create one stable, aligned thumb that pinches and grips well; done in early childhood to guide normal motor development. PMC+1
Preaxial polydactyly of the foot correction — Realigns bones/tendons of the great toe; prevents hallux varus and shoe-wear problems; goal is pain-free, stable gait. ScienceDirect
Iris coloboma repair (selected cases) — Suturing techniques or artificial iris implantation reduce glare and improve cosmesis; not all are candidates. AAO
Treatment of coloboma complications — Standard retinal surgery for detachment; cataract extraction when visually significant; glaucoma procedures as indicated—these treat complications, not the coloboma gap itself. PMC
CSF shunting (when hydrocephalus is present) — Ventriculoperitoneal shunt to relieve intracranial pressure and protect brain/vision when hydrocephalus co-exists in a given patient. Global Genes
Preventions (practical)
Routine vision checks and prompt evaluation of sudden visual changes to catch detachments early. News-Medical
Protective eyewear and UV-blocking lenses outdoors. National Eye Institute
Safe home lighting/contrast improvements to reduce falls. American Osteopathic Association
Up-to-date vaccinations to reduce infection-related growth setbacks. AAP Publications
Growth tracking every 3–6 months in childhood to catch slowing velocity. PubMed
Healthy diet with adequate calcium/vitamin D for bones. Office of Dietary Supplements
Avoid smoking exposure (worsens eye health and growth). National Eye Institute
Post-surgery therapy to maintain thumb/foot function and prevent stiffness. PMC
School accommodations (large print, seating) to prevent academic setbacks. American Osteopathic Association
Genetic counseling before future pregnancies to discuss options and clarify uncertainties. Orpha.net
When to see doctors (red flags & routine)
See an ophthalmologist urgently for sudden flashes, floaters, curtain-like shadows, or painful eye redness—these can signal retinal detachment or other complications of coloboma. Establish regular (at least annual) eye care even if vision seems stable. See a pediatric or adult endocrinologist for short stature (poor height velocity), absent/delayed puberty, infertility concerns, or questions about GH/IGF-1 therapy and sex-steroid induction. Refer to hand/foot surgeons early for duplicated digits to plan timing and goals. Request developmental/educational evaluations if learning or speech delays appear. Any persistent headaches, vomiting or developmental regression warrant prompt evaluation to exclude hydrocephalus or other neurologic issues sometimes reported in case summaries. Global Genes+3News-Medical+3PubMed+3
What to eat & what to avoid
Do eat calcium- and vitamin-D–rich foods (dairy/yogurt, fortified alternatives, fish) to support bones—supplement only if diet is insufficient and labs indicate. Avoid exceeding vitamin D upper limits without medical advice. Office of Dietary Supplements+1
Do eat leafy greens and egg yolks (lutein/zeaxanthin) for eye health. Avoid ultra-processed foods that displace nutrient-dense options. PMC
Do include omega-3 sources (oily fish, walnuts); supplements can be used within safe limits. Avoid >5 g/day EPA+DHA from supplements. Office of Dietary Supplements+1
Do meet iron needs with meats/legumes + vitamin-C foods for absorption. Avoid iron supplements unless deficiency is documented (toxicity risk). Office of Dietary Supplements
Do ensure zinc from meats, beans, nuts. Avoid high-dose zinc that can deplete copper. Office of Dietary Supplements
Do ensure B12 via animal foods or fortified alternatives—supplement if vegan. Avoid unnecessary mega-doses. Office of Dietary Supplements
Do keep total calories balanced to prevent obesity, which can worsen orthopedic issues. AAP Publications
Do stay hydrated; avoid excess sugary drinks that displace nutrients. AAP Publications
Do discuss any supplement with clinicians if on hormones (testosterone/estrogen) or GH/IGF-1. Avoid unregulated “stem-cell” or “hormone booster” products. FDA Access Data
Do prioritize varied whole foods; avoid restrictive fad diets that risk micronutrient gaps in growing children. AAP Publications
Frequently asked questions
Is there a single gene test for this syndrome?
Not yet—published summaries describe very few cases and uncertain inheritance; clinicians order broad gene panels and evaluate look-alike syndromes such as CHARGE or Bardet–Biedl. Orpha.net+1Can the eye coloboma be fixed?
The missing tissue can’t be replaced, but vision can be optimized with glasses, contacts, low-vision aids, and surgery for complications like cataract or retinal detachment. National Eye Institute+1Will surgery for the extra thumb give normal function?
Most children achieve good function when reconstruction aligns bones, ligaments and tendons; therapy afterward is important. PMCHow is short stature treated?
First, find the cause. If growth hormone deficiency or specific labeled indications are confirmed, somatropin may be used; in severe primary IGF-1 deficiency, mecasermin is an option. PubMed+1What are the risks of growth hormone?
Possible but uncommon issues include slipped growth plate hip pain, fluid retention, and benign intracranial hypertension; clinicians monitor height velocity, IGF-1 and symptoms. PMCHow is puberty induced in boys?
Testosterone is started at low doses and slowly increased to adult levels; options include injections, gels, oral TU or intranasal testosterone; BP and blood counts are monitored. FDA Access Data+1How is puberty induced in girls?
Very low-dose estradiol (often transdermal) is started and gradually increased; later, cyclic progesterone is added if the uterus is present to ensure regular shedding. FDA Access Data+1Are testosterone gels safe around children?
They require strict precautions (wash hands, cover sites); accidental exposure can virilize children. Alternatives include injections or oral TU when suitable. FDA Access DataCan these children attend regular school?
Yes—with visual accommodations, therapy supports, and individualized education plans; early low-vision rehab helps. American Osteopathic AssociationIs kidney disease part of this syndrome?
It is not a consistent feature in summary sources, unlike some ciliopathies; each child still needs individualized clinical screening. disorders.eyes.arizona.eduIs there a risk of retinal detachment?
Yes, especially with posterior (retinal/optic nerve) coloboma—sudden visual changes need urgent care. News-MedicalAre there approved stem-cell therapies for this condition?
No. Current care is supportive and feature-directed (vision, growth, puberty, surgery). Be cautious with unregulated claims. PMCDo omega-3s or lutein replace medical therapy?
No—they are supportive; they may aid general or retinal health but do not fix coloboma or replace GH/sex-steroid therapy when indicated. Office of Dietary Supplements+1How often should height be checked?
Typically every 3–6 months in childhood; earlier if concerns arise or treatment starts. AAP PublicationsWho should coordinate care?
A multidisciplinary team—pediatrician, ophthalmology, endocrinology, hand/foot surgery, rehabilitation, genetics, psychology, and school services—tailored to individual needs. Orpha.net
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 24, 2025.
