Devriendt-Vandenberghe-Fryns (DVF) syndrome is a very rare genetic condition first described in two brothers. It combines three main features: (1) complete hair loss present from birth (total alopecia), (2) mild intellectual disability, and (3) hypergonadotropic hypogonadism, which means the ovaries or testes do not work properly and the brain responds by sending high levels of the hormones FSH and LH. Seizures were also reported in the original family, and some reports note that brain wave tests (EEG) can be normal. Because there are so few patients worldwide, many details remain uncertain, but the condition is considered a genetic disorder that begins in newborn life. PubMed+2Genetic Rare Disease Center+2

Devriendt-Vandenberghe-Fryns syndrome is a very rare genetic condition first described in two brothers. The main features are: total hair loss from birth or very early life (alopecia), learning difficulties (usually mild), seizures in childhood, and “hypergonadotropic hypogonadism” (this means the brain releases high levels of LH/FSH hormones, but the testes or ovaries do not respond well, so puberty may be late or incomplete and fertility is often reduced). Doctors also use the name “alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome” for the same condition. PubMed+2Orpha+2

The sex glands (testes in males, ovaries in females) make too little sex hormones. The pituitary gland tries to “push” them by sending high amounts of LH and FSH, but the glands still do not respond well. This usually causes delayed or absent puberty and infertility.

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Other names

This same condition is also called:

• Alopecia–intellectual disability–hypergonadotropic hypogonadism syndrome (the most widely used medical name).

• Devriendt-Vandenberghe-Fryns syndrome (honors the first authors who described it).

• Alopecia–mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism (older wording from the original report).

Reference databases list it as OMIM 601217, Orphanet ORPHA:1014, and MONDO:0011019. EMBL-EBI+3Genetic Rare Disease Center+3Monarch Initiative+3

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Types

Medical articles do not describe formal subtypes for DVF syndrome. However, for clinical use you can think about practical types based on the main features seen in case descriptions. This helps doctors and families understand what to look for.

1. “Classic” DVF pattern – total alopecia at birth, mild intellectual disability, and hypergonadotropic hypogonadism noticed during puberty. This mirrors the first report. PubMed

2. DVF with seizures – the same as above but with childhood seizures. Seizures were present in the original two brothers. PubMed

3. Male-predominant reproductive presentation – boys may show small testes, delayed or absent puberty, and later infertility, together with the hair and learning features. Genetic Rare Disease Center

4. Female-predominant reproductive presentation – girls may present with absent or delayed periods (primary amenorrhea), little breast development, and infertility, along with total alopecia and learning concerns. (This follows the general definition of hypergonadotropic hypogonadism in DVF.) Genetic Rare Disease Center

5. DVF with normal EEG – some reports specifically note a normal EEG despite seizures or developmental concerns. Genetic Rare Disease Center

Note: These are practical groupings, not official genetic subtypes, because the exact gene and spectrum are still not well defined in the literature. Genetic Rare Disease Center

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Causes

Because DVF syndrome is extremely rare, researchers have limited data. The original family suggested a genetic cause, likely autosomal recessive (both parents silent carriers). Below are likely or plausible causes/mechanisms drawn from the published description of this syndrome and from what is known about similar conditions that cause alopecia plus gonadal failure. Where evidence is direct for DVF, we say so; where it is inferred from closely related biology, we state that clearly.

1. Autosomal recessive inheritance (suspected) – two affected brothers in the first report suggested a recessive pattern. PubMed

2. A single-gene mutation affecting hair follicle development – total alopecia from birth points to a gene important for hair follicles not working properly. (General inference for congenital atrichia.) Genetic Rare Disease Center

3. Primary gonadal failure genes – high LH/FSH with low sex steroids means the ovaries/testes themselves are failing; genes that build or maintain these organs may be involved. (Mechanistic inference consistent with hypergonadotropic hypogonadism.) Genetic Rare Disease Center

4. Genes linking skin and endocrine function – some rare syndromes show both skin/hair and hormone problems, hinting a shared pathway. (Biologic inference.) Genetic Rare Disease Center

5. Transcription-factor defects – master genes that switch on hair and gonadal development could, if altered, cause both findings. (Biologic inference.) Genetic Rare Disease Center

6. Cell-signaling pathway errors during embryonic development – mis-signals can disrupt hair follicle formation and gonad formation simultaneously. (Biologic inference.) Genetic Rare Disease Center

7. Abnormal response to gonadotropins – the pituitary sends high LH/FSH, but the gonads do not respond, implying receptor or downstream signaling problems in the gonads. (Mechanistic inference.) Genetic Rare Disease Center

8. DNA changes arising de novo – a new mutation can appear in a child even if parents are healthy; this is common in rare diseases. (General genetic principle noted by GARD.) Genetic Rare Disease Center

9. Founder variants in specific populations – if several cases arise in one community, a shared rare variant could be passed along. (General rare disease mechanism.) Genetic Rare Disease Center

10. Consanguinity (parents related) – increases chances that both parents carry the same rare recessive change. (General recessive-disease risk.) PubMed

11. Genes controlling hair shaft structure – total alopecia suggests hair cannot form a normal shaft; defects here can produce no scalp or body hair. (Biologic inference.) Genetic Rare Disease Center

12. Genes guiding ovarian follicle or testicular cell survival – if germ cells fail early, puberty will not progress normally. (Mechanistic inference.) Genetic Rare Disease Center

13. Chromatin remodeling defects – errors in “gene packaging” can alter many tissues (skin and gonads). (Biologic inference.) Genetic Rare Disease Center

14. Pituitary–gonadal axis mismatch – rarely, the signaling loop itself may be mis-wired even when the pituitary is intact. (Mechanistic inference aligned with hypergonadotropic pattern.) Genetic Rare Disease Center

15. Mitochondrial energy issues in hair or gonadal cells – energy failure can disrupt fast-growing hair and hormone-producing cells. (General inference from other syndromes.) Genetic Rare Disease Center

16. Defects in keratin or adhesion molecules – hair follicles need strong cell connections; defects can cause early hair loss. (Biologic inference.) Genetic Rare Disease Center

17. Abnormalities in apoptosis (programmed cell death) – too much cell death during development can eliminate critical hair or gonadal cells. (Biologic inference.) Genetic Rare Disease Center

18. Immune-mediated injury early in life – much less likely given congenital onset, but immune pathways sometimes modify severity. (General cautionary inference.) Genetic Rare Disease Center

19. Environmental mutagens acting in germ cells – exposures can create new mutations leading to rare genetic disease in offspring. (General genetic principle.) Genetic Rare Disease Center

20. Unknown/undiscovered gene – current databases list the syndrome but do not yet assign a specific gene, so an unknown gene is likely. Genetic Rare Disease Center+1

Important: items 2–19 explain plausible biological mechanisms consistent with what has been reported for this syndrome and similar conditions. Only a few DVF cases have been published, so definitive gene-level proof is still pending. Genetic Rare Disease Center

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Symptoms and signs

1. Total hair loss at birth – no scalp, eyebrow, eyelash, or body hair. This is a key sign of DVF syndrome. Genetic Rare Disease Center

2. Mild intellectual disability – learning is slower than peers; children may need extra support in school. Genetic Rare Disease Center

3. Delayed or absent puberty – because the sex glands do not make hormones normally. Genetic Rare Disease Center

4. Infertility – common with hypergonadotropic hypogonadism if untreated. Genetic Rare Disease Center

5. Seizures in childhood (sometimes) – reported in the original family. PubMed

6. Normal EEG possible – some summaries note normal EEG despite symptoms. Genetic Rare Disease Center

7. Small testes in boys – a clue to primary testicular failure. Genetic Rare Disease Center

8. Lack of facial or body hair during adolescence – due to low sex hormones. Genetic Rare Disease Center

9. Under-developed breasts and absent periods in girls – due to ovarian failure. Genetic Rare Disease Center

10. Short stature or growth concerns (variable) – may occur in some individuals with long-standing hormone deficiency. (General consequence of hypogonadism.) Genetic Rare Disease Center

11. Dry or sensitive skin – common when hair follicles are absent and skin barrier is different. (Clinical inference with congenital alopecia.) Genetic Rare Disease Center

12. Sun sensitivity of the scalp – no hair protection increases sunburn risk. (General clinical inference.) Genetic Rare Disease Center

13. Psychosocial stress – hair loss and delayed puberty can cause low self-esteem and anxiety. (General clinical observation.) Genetic Rare Disease Center

14. Speech or motor developmental delay (mild) – sometimes accompanies mild intellectual disability. (General clinical inference in syndromic ID.) Genetic Rare Disease Center

15. Bone health issues later in life – long-term low sex hormones can reduce bone density. (Mechanism-based inference.) Genetic Rare Disease Center

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Diagnostic tests

A) Physical examination

1. Whole-body hair inspection – confirms complete absence of scalp, eyebrow, eyelash, and body hair from birth. This separates DVF from common autoimmune alopecia that starts later. Genetic Rare Disease Center

2. Pubertal staging (Tanner stage) – checks breast, genital, and body hair development to spot delayed or absent puberty. Genetic Rare Disease Center

3. Genital exam – looks for small testes in boys or under-developed external genitalia in girls, which supports primary gonadal failure. Genetic Rare Disease Center

4. Neurologic check – screens for seizures or subtle findings; even if exam is normal, the history may point to past convulsions. PubMed

5. Growth and nutrition assessment – tracks height, weight, and BMI because long-term hormone deficiency can change growth and bone health. Genetic Rare Disease Center

B) Manual/bedside tests

6. Hair-pull test / dermoscopy – although hair is absent, dermoscopy of the scalp helps document follicle status and rule out scarring causes of hair loss. (General alopecia assessment principle.) Genetic Rare Disease Center

7. Olfaction and simple cranial nerve screening – quick bedside checks for broader neurologic function when seizures are suspected. (General neurologic practice.) Genetic Rare Disease Center

8. Vision and hearing screening – basic manual checks can reveal associated sensory issues that affect learning plans. (General syndromic care.) Genetic Rare Disease Center

C) Laboratory and pathological tests

9. Serum LH and FSH – typically high, showing the pituitary is trying to stimulate non-responsive gonads (hypergonadotropic pattern). Genetic Rare Disease Center

10. Sex steroids (testosterone in males; estradiol in females) – typically low for age and pubertal stage. Genetic Rare Disease Center

11. Anti-Müllerian hormone (AMH) and inhibin B – can help judge ovarian reserve (girls) or Sertoli cell function (boys). (General hypogonadism work-up.) Genetic Rare Disease Center

12. Thyroid profile – rules out thyroid disease that can also delay puberty or affect hair. (General endocrine differential.) Genetic Rare Disease Center

13. Complete blood count and metabolic panel – baseline health, screens for anemia or metabolic problems that could worsen fatigue or development. (General care.) Genetic Rare Disease Center

14. Autoimmune markers (when needed) – helps exclude autoimmune alopecia or other autoimmune endocrine problems if the presentation is atypical. (Differential diagnosis step.) Genetic Rare Disease Center

15. Genetic testing – a clinical genetics panel or exome/genome testing seeks the responsible gene. Even when a specific DVF gene is not yet established, testing may reveal a pathogenic variant explaining the triad. Databases (GARD/Orphanet/MalaCards) list the syndrome but currently do not assign a specific gene. Genetic Rare Disease Center+2Orpha+2

D) Electrodiagnostic tests

16. Electroencephalography (EEG) – checks brain electrical activity if seizures occurred. Reports for DVF note that EEG may be normal. Genetic Rare Disease Center

17. Electrocardiogram (ECG) – routine screening if there is syncope or medication use for seizures; not a core DVF feature but part of safe care. (General safety practice.) Genetic Rare Disease Center

18. Nerve conduction/EMG (when indicated) – used only if weakness or neuropathy is suspected; usually normal but can exclude other causes of developmental delay. (General differential.) Genetic Rare Disease Center

E) Imaging tests

19. Pelvic ultrasound (females) – evaluates uterus and ovaries; small ovaries or streak gonads support primary ovarian failure. (Hypogonadism work-up.) Genetic Rare Disease Center

20. Testicular ultrasound (males) – measures testicular volume and structure in boys with delayed puberty. (Hypogonadism work-up.) Genetic Rare Disease Center

21. Bone age X-ray – estimates skeletal maturity; often delayed when sex hormones are low. (General endocrine assessment.) Genetic Rare Disease Center

22. Brain MRI (if seizures or developmental regression) – rules out other structural causes when seizures are part of the picture. (General neurologic care.) PubMed

Non-pharmacological treatments (therapies and others)

Important: There is no single curative therapy yet. Care focuses on function, development, bone health, hormones, and quality of life.

1. Genetic counseling for the family: explains what is known, recurrence risk, and testing options for relatives. (Standard rare-disease care.)

2. Early intervention (birth–5 years): speech, occupational, and physical therapy to build skills early. (Best practice for developmental delay.)

3. Individualized education plan (IEP) or special education supports in school to match the learner’s needs. (Education standard.)

4. Speech-language therapy for expressive and receptive language and social communication. (Developmental care.)

5. Occupational therapy for fine-motor skills, sensory strategies, and daily living skills. (Developmental care.)

6. Physical therapy for strength, balance, and endurance; also helps bone health. (Developmental/bone health.)

7. Seizure-safety education for caregivers (sleep, illness, medication adherence, water safety, rescue plan). (Epilepsy standard.)

8. Psychology/CBT to support self-esteem, anxiety, and coping with visible hair loss. (Behavioral health.)

9. Social work support to connect with benefits, transportation, and respite services. (Care coordination.)

10. Wigs, cranial prostheses, and head coverings for comfort, sun protection, and personal style; insurance may cover medical wigs in some regions. (Dermatology supportive care.)

11. Sun protection plan (SPF 30+, hats) to protect scalp without hair cover. (Dermatology standard.)

12. Dermatology camouflage options (eyebrow prosthetics, scalp micropigmentation) for appearance goals. (Cosmetic support.)

13. Nutrition counseling to ensure calcium, vitamin D, protein, and overall balanced diet for growth and bones. (Endocrine/primary care.) ACOG

14. Sleep hygiene coaching (consistent schedule, screens off) to support learning and reduce seizure risk. (General neuro.)

15. Assistive technology (text-to-speech, organizational apps) to support classroom and daily tasks. (Education/OT.)

16. Physical activity plan (weight-bearing exercise) to improve bone density and mood. (Bone health.) ACOG

17. Fertility counseling early (set expectations; discuss future options such as donor gametes or adoption). (Reproductive endocrine.) ACOG

18. Vaccination on time to reduce severe infections that could worsen seizures or health. (Public health standard.)

19. Peer and patient support groups (rare-disease networks) for coping and shared tips. (Psychosocial support.)

20. Regular multidisciplinary follow-up (dermatology, neurology, endocrinology, genetics, primary care). (Care standard.)

Drug treatments

Reality check: There is no disease-specific medicine proven to correct the underlying syndrome. Medicines target symptoms: sex-hormone replacement, seizures, bone health, mood/behavior, and skin care. Doses below are typical ranges; individual prescribing must be done by a clinician.

1. Testosterone therapy (males) — Class: androgen. Dose examples: gel 1% 5–10 g once daily (delivers ~50–100 mg T), or testosterone enanthate/cypionate 50–100 mg IM weekly. When: start around expected puberty if labs show primary testicular failure. Purpose: induce and maintain male puberty, libido, muscle and bone health. Mechanism: replaces missing testosterone. Side effects: acne, erythrocytosis, mood changes; monitor hematocrit, PSA in adults. Endocrine Society+2Oxford Academic+2

2. Estrogen–progestin therapy (females with primary ovarian insufficiency) — Class: sex-hormone replacement. Dose examples: transdermal estradiol 50–100 µg/day with cyclic oral progestin (e.g., medroxyprogesterone acetate 10 mg daily for 12–14 days/month) once breast development begins; dosing is individualized and often higher than in menopause to match physiologic levels in youth. When: start in adolescence if labs confirm POI; titrate slowly. Purpose: develop/maintain secondary sex traits, cycle control, bone and cardiovascular protection. Mechanism: replaces low estrogen; progestin protects the uterus. Side effects: breast tenderness, headaches, rare thromboembolism risk; individualized counseling is essential. ACOG+2ACOG+2

3. Calcium + Vitamin D — Class: supplements. Dose examples: calcium 1000–1300 mg/day (diet + supplement); vitamin D3 800–2000 IU/day (adjust to level). When: ongoing with low sex hormones or on HRT to support bones. Purpose: bone mineralization. Mechanism: supplies building blocks. Side effects: constipation with high calcium; monitor 25-OH-D. ACOG

4. Levetiracetam — Class: antiseizure. Dose: children often 10–60 mg/kg/day in 2 doses; adults 1000–3000 mg/day. When: if seizures occur. Purpose: prevent seizures. Mechanism: binds SV2A to reduce neuronal excitability. Side effects: irritability, somnolence; adjust to response. (Standard epilepsy care.)

5. Lamotrigine — Class: antiseizure. Dose: slow titration to 5–15 mg/kg/day (kids) or 200–400 mg/day (adults). Purpose: seizure control; mood benefit in some patients. Mechanism: blocks voltage-gated sodium channels. Side effects: rash (rare SJS), dizziness; must titrate slowly.

6. Valproate — Class: antiseizure. Dose: 10–60 mg/kg/day in divided doses. Purpose: broad-spectrum seizure control. Mechanism: increases GABA. Side effects: weight gain, liver toxicity, teratogenicity; avoid in females of child-bearing potential when possible. (Safety caution.)

7. Topiramate — Class: antiseizure. Dose: 2–9 mg/kg/day (kids), up to 400 mg/day (adults). Purpose: seizure control. Mechanism: multiple, including sodium channels and GABA. Side effects: paresthesias, cognitive slowing, kidney stones.

8. Melatonin — Class: sleep regulator. Dose: 1–5 mg 30–60 min before bedtime. Purpose: helps sleep if insomnia worsens seizures or learning. Mechanism: supports circadian rhythm. Side effects: morning grogginess.

9. SSRI (e.g., sertraline) — Class: antidepressant. Dose: start 25–50 mg/day; adjust. Purpose: treat anxiety/depression related to visible alopecia and chronic illness. Mechanism: serotonin reuptake inhibition. Side effects: GI upset, activation early in treatment.

10. Stimulant (e.g., methylphenidate) — Class: ADHD medication. Dose: weight-based; titrate to effect. Purpose: attention and executive function support if ADHD-like symptoms exist. Side effects: appetite loss, insomnia.

11. Bisphosphonate (e.g., alendronate) — Class: anti-resorptive. Dose: 70 mg weekly in adults (specialist guidance in adolescents). Purpose: treat osteoporosis if present despite optimized sex-hormone replacement. Mechanism: reduces bone breakdown. Side effects: GI irritation, rare jaw osteonecrosis.

12. Minoxidil topical 5% — Class: vasodilator for hair. Dose: once or twice daily to scalp. Purpose: trial for hair density; benefit uncertain in congenital total alopecia but sometimes attempted. Mechanism: shortens telogen, prolongs anagen. Side effects: irritation, unwanted facial hair.

13. Topical corticosteroids — Class: anti-inflammatory. Purpose: only if there is any autoimmune areata overlap (often not the case here). Mechanism: reduces local inflammation. Side effects: skin atrophy with prolonged use.

14. JAK inhibitors (e.g., baricitinib, ritlecitinib) — Class: targeted immunomodulators approved for severe alopecia areata. Note: These can help autoimmune alopecia areata. Congenital alopecia syndromes like this one usually do not respond. Use only within trials or specialist advice. Side effects: infection risk, lab changes. PMC+3Frontiers+3JAMA Network+3

15. Vitamin D pharmacologic repletion — Class: supplement to treatment levels. Dose: per level (e.g., 2000–4000 IU/day or short high-dose courses). Purpose: correct deficiency. Mechanism: improves calcium absorption. Side effects: hypercalcemia if excessive.

16. Iron therapy (if iron-deficiency anemia) — Class: supplement. Dose: 3–6 mg/kg/day elemental iron (kids) or 65 mg elemental iron 1–3×/day (adults). Purpose: correct anemia that worsens fatigue and cognition. Mechanism: restores hemoglobin. Side effects: GI upset, dark stools.

17. Omega-3 fatty acids — Class: supplement. Dose: ~1 g/day EPA+DHA (check labels). Purpose: general cardiometabolic and mood support. Mechanism: anti-inflammatory effects. Side effects: fishy aftertaste, bleeding risk at high doses.

18. Calcium-channel blockers (for migraine, if present) — e.g., flunarizine where available; preventives are tailored to symptoms. (General neuro.)

19. Antipsychotic (e.g., risperidone) only if severe behavior alters safety; lowest effective dose. Side effects: metabolic, extrapyramidal—monitor closely.

20. Acne management while on sex-hormone therapy (e.g., topical retinoids) to improve adherence and comfort. (Derm standard.)

Key safety note: Sex-hormone replacement and seizure medicines have guideline-based indications and monitoring plans. Work with endocrinology and neurology. Endocrine Society+2Oxford Academic+2

Dietary molecular supplements

1. Vitamin D3 (800–2000 IU/day, adjust to level): supports calcium absorption and bone mineralization; hormone deficiency raises bone risk. ACOG

2. Calcium (diet + supplement to 1000–1300 mg/day): structural bone mineral. ACOG

3. Protein (0.8–1.2 g/kg/day overall target): supports growth and hair-bearing skin. Mechanism: amino acids for keratin and muscle.

4. Omega-3 (≈1 g/day EPA+DHA): anti-inflammatory membrane effects; mood and cardiovascular support.

5. Iron (if deficient; dosing above): rebuilds hemoglobin for energy and cognition.

6. Zinc (8–11 mg/day total intake): cofactor in hair and skin biology; deficiency worsens hair; avoid excess.

7. Biotin (30 µg/day typical): required for carboxylase enzymes; helps if deficient; routine megadoses are not proven for congenital alopecia.

8. Selenium (55 µg/day): antioxidant role in hair/thyroid enzymes; avoid excess.

9. Folate (400 µg/day): supports red blood cell production and neural function.

10. Vitamin B12 (as needed to keep level normal): nerve and hematologic roles.

Immunity-booster / regenerative / stem-cell” drugs

There are no approved immune-booster drugs, stem-cell drugs, or regenerative medicines that reverse this syndrome today. Unregulated “stem-cell” injections are risky and not advised. If hair loss is congenital and non-scarring, immune-targeted alopecia areata treatments (like JAK inhibitors) generally do not help; they target autoimmune attack, which is not the known driver here. Safer, evidence-based options are: appropriate vaccinations, balanced diet, exercise, sleep, vitamin D, and endocrine replacement when indicated. Consider clinical trials in academic centers if a genetics team identifies a candidate pathway. Frontiers+1

Surgeries

Surgery is not routine for this syndrome. It may appear only for specific complications or unrelated issues:

1. Epilepsy surgery (rare): only for focal, drug-resistant epilepsy after full work-up. Why: reduce seizures when medicines fail. (General epilepsy standard.)

2. Dental surgery/implants if structural dental issues limit chewing or speech. Why: function and nutrition.

3. Orthopedic procedures for significant deformity affecting mobility. Why: function and pain.

4. Ophthalmic procedures (e.g., strabismus repair) if present. Why: vision and alignment.

5. Cosmetic scalp procedures (e.g., micropigmentation). Why: appearance goals; hair transplant is usually not helpful when follicles are absent.

Preventions

1. Genetic counseling before future pregnancies to discuss testing options. Orpha

2. Offer modern genetic testing (exome/genome) to affected people to clarify cause if possible.

3. Newborn and early-child checks for development and seizures.

4. Keep vaccines up to date to avoid serious infections that can worsen seizures or delay schooling.

5. Sun protection for exposed scalp.

6. Bone-health habits: calcium-rich diet, vitamin D, weight-bearing exercise. ACOG

7. Healthy sleep routine to reduce seizure risk.

8. Avoid smoking and limit alcohol (bone and brain health).

9. Medicines reviewed before pregnancy in adults.

10. Build a multidisciplinary team (primary care, dermatology, neurology, endocrinology, genetics).

When to see a doctor (red flags)

• A baby born without scalp hair or eyebrows/eyelashes.

• Delayed or absent puberty signs by the expected age.

• Seizures or unusual spells.

• Rapid decline in school performance or behavior.

• Bone pain, fractures after minor falls, or severe vitamin D deficiency.

• Mood changes, anxiety, or depression related to visible hair loss.

• Planning pregnancy or fertility questions in adolescence or adulthood. PubMed+1

What to eat (and what to avoid)

What to eat:

• Daily calcium sources (milk/yogurt/fortified alternatives, leafy greens).

• Vitamin D sources (oily fish, fortified foods) plus safe sunlight; supplement as needed.

• Lean proteins (eggs, fish, poultry, legumes) to support growth and skin.

• Whole grains, fruits, vegetables for fiber and micronutrients.

• Omega-3s (fish, walnuts, flax). ACOG

What to avoid or limit:

• Sugary drinks and ultra-processed foods (weight, metabolic health).

• Excess caffeine if it worsens sleep or seizure threshold.

• Smoking and heavy alcohol (bone and neurologic risk).

• Unregulated “stem cell” or “immune booster” products (safety concerns, no proof).

Frequently asked questions

1) Is there a cure?
Not yet. Care focuses on hormones, seizures, development, bone health, and quality of life. Orpha

2) Will hair grow back with treatment?
For congenital total alopecia, regrowth is unlikely. Cosmetic solutions (wigs, brows, scalp micropigmentation) help many people feel better. Orpha

3) Are JAK inhibitors a solution?
They help autoimmune alopecia areata. In congenital alopecia like this syndrome, benefit is uncertain and often absent. Use only under specialist guidance or in research. JAMA Network+1

4) Can puberty be induced?
Yes. Testosterone replacement in males and estrogen-progestin therapy in females can induce and maintain puberty and protect bones, under endocrine supervision. Endocrine Society+1

5) What about fertility?
Hypergonadotropic hypogonadism reduces fertility. Some families consider donor sperm or donor oocytes, or adoption. An early talk with a reproductive endocrinologist helps. ACOG

6) Will learning improve?
Many children make steady gains with speech/OT/PT and tailored teaching. Early intervention matters. (Standard developmental practice.)

7) Are seizures lifelong?
Not always. Many children outgrow seizures or do well on medicines. A neurologist will personalize care. (General epilepsy outcomes.)

8) Is it inherited?
Inheritance is not firmly established. The first family suggested a possible recessive pattern, but more data are needed. Genetic counseling is advised. PubMed+1

9) Which doctor should coordinate care?
Start with a pediatrician or internist and add dermatology, neurology, endocrinology, and genetics.

10) Is gene testing helpful?
Yes. Even if no known gene is found, testing can rule out other conditions and may enable research studies.

11) Will hormone therapy cause side effects?
All medicines have risks. Endocrine guidelines show how to select doses and monitor safely. Endocrine Society+1

12) How do we protect bones?
Adequate calcium/vitamin D, weight-bearing exercise, and correct sex-hormone replacement. DXA if risk is high. ACOG

13) Are there clinical trials?
Trials are rare but possible for hair disorders or genetic discovery. A genetics clinic can advise and connect you.

14) How do we handle bullying or stigma?
Psychology support, school plans, and peer groups help. Cosmetic options can support confidence.

15) What is the long-term outlook?
Many people live into adulthood with appropriate supports. Quality of life improves with multidisciplinary care.

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: September 13, 2025.

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