Hallermann–Streiff syndrome (HSS) is a very rare genetic disorder that affects the development of the skull, face, skin, hair, teeth, and eyes. People with HSS typically have a bird-like facial appearance—sometimes called “bird face”—because of a small, pointed (beaked) nose and a small lower jaw (micrognathia). Their skin is often thin and fragile, hair is sparse, and dental abnormalities are common. Eye problems such as small eyes (microphthalmia) and congenital cataracts are hallmark features. Most individuals have normal intelligence, but they may face breathing and feeding difficulties in infancy. There is no cure; management focuses on treating each symptom as it arises through surgery, vision care, dental work, and therapies rarediseases.info.nih.gov.
Hallermann–Streiff syndrome is a rare condition where a baby is born with a unique head shape (flat at the back, prominent forehead), thin or sparse hair, small eyes that often have cataracts, and dental problems like missing or unusual teeth. The face looks somewhat bird-like because the nose is pointed and the lower jaw is small. The skin can be very thin, and breathing can be hard because the throat and windpipe are small. Intelligence is usually normal. No cure exists; care focuses on treating each problem as it appears rarediseases.info.nih.govWikipedia.
Types of Hallermann–Streiff Syndrome
Although HSS is classically described as a single clinical entity, doctors recognize three broad presentations based on severity and predominant features:
Classic HSS
Most common form with all core features: bird-like face, skin/hair changes, dental and eye anomalies.
Often diagnosed in infancy when feeding or breathing problems emerge Wikipedia.
Mild HSS
Subtle facial changes and only mild eye or dental involvement.
May escape diagnosis until later in childhood or adulthood, often when cataracts or dental issues prompt evaluation PubMed.
Severe HSS
Pronounced facial malformations, significant airway obstruction, and early vision loss from dense cataracts.
High risk of respiratory complications requiring tracheostomy in infancy gimopen.org.
Possible Causes
The exact cause of HSS remains unclear, but research and case reports suggest multiple triggers, all leading to disrupted development during early pregnancy. Each of these is thought to play a role in individual cases:
De novo genetic mutations in yet-to-be-identified developmental genes rarediseases.info.nih.gov.
GJA1 (connexin-43) mutations, though not confirmed in all cases Wikipedia.
Spontaneous chromosomal changes during the first trimester adc.bmj.com.
Environmental toxins (e.g., pesticides) affecting embryonic development.
Maternal viral infections, such as rubella or cytomegalovirus, disrupting craniofacial formation.
In utero exposure to radiation, including medical imaging without protective shielding.
Poor maternal nutrition, especially deficiencies in folic acid and vitamin A.
Maternal diabetes leading to abnormal fetal growth patterns.
Placental insufficiency, causing reduced nutrient and oxygen supply to the embryo.
Hormonal imbalances, such as polycystic ovarian syndrome impacting embryonic development.
Maternal smoking leading to vascular disruption and tissue hypoxia.
Maternal alcohol consumption, causing direct teratogenic effects.
Medication exposure, including some anti-seizure drugs during pregnancy.
High maternal stress, with elevated cortisol levels affecting fetal cell growth.
Twin-to-twin transfusion syndrome in multiple pregnancies.
Advanced paternal age, increasing the risk of new genetic mutations.
Advanced maternal age, with reduced egg quality.
Assisted reproductive technologies, though data are limited.
Unknown multifactorial interactions between genes and environment.
Epigenetic modifications in utero that alter gene expression patterns.
Each potential cause reflects a disruption in the precise sequence of signals that shape the face, skull, skin, and eyes during early human development. Because most cases occur sporadically, pinpointing a single cause is difficult, and investigations continue to explore genetic and environmental links PubMedWikipedia.
Common Symptoms
Symptoms of HSS vary in severity but generally include:
Beaked nose (bird-like nasal shape)
Micrognathia (small lower jaw) leading to feeding and breathing issues EyeWiki.
Frontal bossing (high, prominent forehead)
Hypotrichosis (sparse, thin hair and eyebrows)
Skin atrophy (thin, transparent skin prone to bruising)
Microphthalmia (abnormally small eyes)
Congenital bilateral cataracts leading to early vision impairment Wiley Online Library.
Dental anomalies, such as small teeth, delayed eruption, or missing teeth.
Short stature, often proportionate but below average height.
Glossoptosis (downward displacement of the tongue) causing airway obstruction.
Sleep apnea from airway malformations.
Recurrent respiratory infections due to airway vulnerability.
Dental decay from malformed teeth and feeding difficulties.
Ear malformations leading to hearing loss.
Normal intelligence, although learning may be affected by vision or hearing issues rarediseases.info.nih.gov.
Each symptom arises from the underlying developmental anomalies and requires tailored management by specialists in surgery, ophthalmology, dentistry, and audiology.
Diagnostic Tests
A multidisciplinary team uses a combination of exams and tests to diagnose HSS and rule out similar conditions:
A. Physical Examination
Craniofacial inspection for beaked nose, micrognathia, and frontal bossing.
Skin assessment for atrophy and hair sparsity.
Growth measurements to document short stature.
Oral/dental exam to check tooth number, size, and eruption.
Airway evaluation (e.g., flexible nasopharyngoscopy) for glossoptosis and obstruction.
B. Manual Tests
Jaw mobility test to assess mandibular size and movement.
Palpation of sutures on the skull to detect early suture fusion.
Manual eye tests (e.g., cover test) to detect strabismus.
C. Laboratory & Pathological Tests
Genetic panel testing for known craniofacial syndrome genes.
Chromosomal microarray to identify submicroscopic deletions/duplications.
Blood count and metabolic panel to screen for associated systemic anomalies.
D. Electrodiagnostic Tests
Brainstem auditory evoked responses (BAER) to evaluate hearing pathways.
Electrocardiogram (ECG) to rule out congenital heart defects.
Sleep study (polysomnography) to assess sleep apnea severity.
E. Imaging Studies
Skull X-ray for bone structure and suture evaluation.
Facial CT scan for detailed craniofacial anatomy.
MRI of brain and orbits to assess eye sockets and brain anomalies.
Echocardiogram to detect heart defects.
Dental panoramic X-ray (orthopantomogram) for tooth and jaw assessment.
Ultrasound of neck to evaluate airway and soft tissues.
These tests confirm the characteristic features of HSS, assess the severity of organ involvement, and guide surgical and therapeutic planning PubMedWikipedia.
Non-Pharmacological Treatments
Tracheostomy & Airway Management
Description: Surgically create an opening in the windpipe.
Purpose: Bypass upper airway blockage to improve breathing.
Mechanism: Directly delivers air to the lungs through a stoma. Frontiers
Non-Invasive Ventilation (NIV)
Description: Mask-based breathing support at night.
Purpose: Prevent sleep apnea and low oxygen levels.
Mechanism: Delivers positive pressure to keep airway open. Frontiers
Maxillofacial Surgery
Description: Reconstruct facial bones (jaw, midface).
Purpose: Improve chewing, speaking, and appearance.
Mechanism: Bone repositioning and grafting. Frontiers
Early Cataract Surgery
Description: Remove cloudy lens from the eye.
Purpose: Restore vision in infants.
Mechanism: Phacoemulsification or lens extraction. Wikipedia
Regular Ophthalmology Follow-Up
Description: Scheduled eye exams.
Purpose: Monitor for glaucoma, cataracts, microphthalmia.
Mechanism: Early detection and intervention. Wikipedia
Orthodontic Care & Dental Surgery
Description: Align teeth, remove natal or supernumerary teeth.
Purpose: Improve bite, speech, and oral health.
Mechanism: Braces, extractions, restorations. MalaCards
Physical Therapy
Description: Muscle-strengthening and flexibility exercises.
Purpose: Improve posture and mobility if skeletal issues exist.
Mechanism: Guided exercise regimens.
Speech Therapy
Description: Exercises to improve articulation and swallowing.
Purpose: Address speech delays due to facial structure.
Mechanism: Repetitive speech drills.
Nutritional Support
Description: High-calorie, easy-to-swallow diets.
Purpose: Ensure adequate growth despite feeding difficulties.
Mechanism: Specialized feeds, feeding therapy.
Skin Care Regimen
Description: Gentle moisturizers and sun protection.
Purpose: Protect fragile, thin skin.
Mechanism: Barrier creams, SPF lotions.
Psychosocial Support
Description: Counseling and support groups.
Purpose: Help families cope and connect with others.
Mechanism: Group therapy, peer networks.
Growth Monitoring
Description: Regular height and weight checks.
Purpose: Track development and catch failures early.
Mechanism: Pediatric growth charts.
Hearing Tests
Description: Audiometry and ear exams.
Purpose: Detect middle-ear issues common in craniofacial disorders.
Mechanism: Pure-tone and speech audiometry.
Sleep Studies
Description: Polysomnography at night.
Purpose: Diagnose obstructive sleep apnea.
Mechanism: Monitor breathing, oxygen saturation.
Dental Hygiene Instruction
Description: Teaching proper brushing and flossing.
Purpose: Prevent decay in enamel-deficient teeth.
Mechanism: Demonstrations, routine dental cleanings.
Genetic Counseling
Description: Inform families about recurrence risk.
Purpose: Provide family planning advice.
Mechanism: One-on-one geneticist sessions.
Occupational Therapy
Description: Adapt activities of daily living.
Purpose: Promote independence in self-care.
Mechanism: Adaptive equipment training.
Monitoring for Cor Pulmonale
Description: Regular chest imaging and cardiac exams.
Purpose: Detect right-heart strain from chronic lung issues.
Mechanism: Echocardiography. Orphan Anesthesia
Vaccination Catch-Up
Description: Ensure all childhood vaccines are up-to-date.
Purpose: Prevent respiratory infections.
Mechanism: Standard immunization schedule.
Dental Prosthetics
Description: Partial dentures for missing teeth.
Purpose: Improve chewing and facial support.
Mechanism: Custom-fitted prosthetic devices. MalaCards
Drug Treatments
All drug use is symptom-based and must be supervised by a specialist.
Timolol Eye Drops
Class: Beta-blocker eye drop
Dosage: 0.25–0.5% once or twice daily
Time: Morning and/or evening
Purpose: Lower intraocular pressure in glaucoma
Mechanism: Reduces aqueous humor production
Side Effects: Eye irritation, bradycardia Wikipedia
Latanoprost Eye Drops
Class: Prostaglandin analog
Dosage: 0.005% once nightly
Time: Bedtime
Purpose: Lower intraocular pressure
Mechanism: Increases uveoscleral outflow
Side Effects: Iris color change, eyelash growth Wikipedia
Acetazolamide
Class: Carbonic anhydrase inhibitor
Dosage: 250 mg two to three times daily
Time: With meals
Purpose: Reduce fluid production in eye, relieve intracranial pressure
Mechanism: Inhibits aqueous humor formation
Side Effects: Tingling, kidney stones
Pilocarpine
Class: Cholinergic agonist
Dosage: 1–2% solution up to four times daily
Time: Every six hours
Purpose: Treat narrow-angle glaucoma
Mechanism: Contracts the iris sphincter, opens drainage
Side Effects: Headache, brow ache
Modafinil
Class: Wakefulness-promoting agent
Dosage: 100–200 mg once daily
Time: Morning
Purpose: Reduce daytime sleepiness from sleep apnea
Mechanism: Alters neurotransmitters in brain
Side Effects: Headache, insomnia
Risperidone
Class: Atypical antipsychotic
Dosage: 0.5–2 mg daily
Time: Morning or evening
Purpose: Manage psychosis or behavioral issues
Mechanism: Dopamine-serotonin antagonist
Side Effects: Weight gain, sedation PMC
Amoxicillin
Class: Penicillin antibiotic
Dosage: 20–40 mg/kg/day divided
Time: Every eight hours
Purpose: Prevent or treat respiratory infections
Mechanism: Inhibits bacterial cell wall synthesis
Side Effects: Diarrhea, rash
Salbutamol Inhaler
Class: Beta-2 agonist bronchodilator
Dosage: 100 µg per puff, 1–2 puffs as needed
Time: When wheezing occurs
Purpose: Relieve bronchospasm
Mechanism: Relaxes airway smooth muscle
Side Effects: Tremor, tachycardia
Omeprazole
Class: Proton pump inhibitor
Dosage: 10–20 mg once daily
Time: Before breakfast
Purpose: Manage gastroesophageal reflux from airway pressure
Mechanism: Reduces stomach acid
Side Effects: Headache, nausea
Vitamin D₃ (Calcifediol)
Class: Hormonal vitamin supplement
Dosage: 400–1,000 IU daily
Time: With meals
Purpose: Support bone health
Mechanism: Promotes calcium absorption
Side Effects: Hypercalcemia if overdosed
Dietary Molecular & Herbal Supplements
Biotin (Vitamin B₇), 5 mg daily
Function: Hair and nail growth
Mechanism: Coenzyme in fatty acid synthesis
Collagen Peptides, 2–5 g daily
Function: Improve skin elasticity
Mechanism: Provides amino acids for dermal matrix
Vitamin C, 500 mg twice daily
Function: Enamel and skin repair
Mechanism: Cofactor for collagen synthesis
Zinc, 15–30 mg daily
Function: Hair growth and skin health
Mechanism: Supports DNA replication and repair
Omega-3 Fish Oil, 1,000 mg daily
Function: Anti-inflammatory
Mechanism: Modulates eicosanoid pathways
Vitamin A (Retinol), 2,500 IU daily
Function: Skin turnover
Mechanism: Regulates gene expression in skin cells
Coenzyme Q₁₀, 100 mg daily
Function: Cellular energy, antioxidant
Mechanism: Electron carrier in mitochondria
Sweet Basil Extract, 300 mg daily
Function: Anti-inflammatory
Mechanism: Inhibits COX and LOX pathways
Turmeric (Curcumin), 500 mg twice daily
Function: Skin healing
Mechanism: Inhibits NF-κB inflammation
Green Tea Extract, 250 mg daily
Function: Antioxidant skin protection
Mechanism: Scavenges free radicals
Silica (Horsetail Extract), 10 mg daily
Function: Hair and nail strength
Mechanism: Enhances collagen cross-linking
Lysine, 1 g daily
Function: Wound healing
Mechanism: Amino acid for collagen formation
Magnesium, 250 mg daily
Function: Muscle relaxation
Mechanism: Cofactor in ATPase
Ashwagandha, 300 mg twice daily
Function: Stress management
Mechanism: Modulates HPA axis
Aloe Vera Juice, 30 mL daily
Function: Skin hydration
Mechanism: Polysaccharides retain moisture
Regenerative & Stem-Cell-Related Drugs
Currently, no stem-cell therapies are approved specifically for HSS. Experimental approaches include:
Mesenchymal Stem Cell (MSC) Infusion (Phase I trials)
Autologous Skin Cell Grafts (dermal fibroblast expansion)
Platelet-Rich Plasma (PRP) for skin and hair
Exosome Therapy from MSCs (investigational)
Gene Editing (CRISPR) of GJA1 in preclinical studies
Nanoparticle-Delivered Growth Factors to promote bone healing
Surgeries & Why They’re Done
Tracheostomy – secure airway in severe obstruction Frontiers
Mandibular Distraction Osteogenesis – lengthen lower jaw for better bite and airway
Cataract Extraction – clear vision in infancy to support normal visual development Wikipedia
Rhinoplasty & Nasal Reconstruction – reshape nose for airway and aesthetics
Dental Extractions & Implants – remove malformed teeth and replace with prosthetics MalaCards
Prevention Tips
No known prevention—occurs randomly.
Early prenatal ultrasound may detect craniofacial anomalies.
Genetic counseling after diagnosis.
Avoid smoking and alcohol in pregnancy (general congenital risk reduction).
Optimize maternal health (folate, nutrition).
Early multidisciplinary care planning.
Vaccinate against respiratory pathogens.
Maintain good oral hygiene.
Protect skin from sun and injury.
Monitor sleep and breathing early.
When to See a Doctor
Newborn: difficulty breathing or feeding
Infancy: cataracts or vision loss signs
Childhood: dental pain or severe infections
Any Age: sudden airway blockage or severe respiratory distress
Routine: every 3–6 months for growth, eye and dental checks
Foods to Eat & Avoid
Eat:
Soft, high-calorie purees (avocado, banana)
Lean proteins (chicken, lentils) for growth
Dairy and fortified plant milks for calcium/vitamin D
Cooked vegetables for easy digestion
Fish rich in omega-3 (salmon)
Avoid:
6. Hard, sharp foods (nuts, chips) that risk dental injury
7. Sugary snacks to prevent tooth decay
8. Carbonated drinks that erode enamel
9. Very hot or icy foods that irritate thin skin
10. Excess caffeine or stimulants
Frequently Asked Questions
What causes HSS?
No clear gene; likely a random mutation in early development Wikipedia.Is HSS inherited?
Almost always sporadic; family risk is extremely low.How is HSS diagnosed?
By characteristic facial features and eye/dental exams.Can children with HSS go to regular school?
Yes; intelligence is usually normal.Will my child need a tracheostomy?
Only if breathing is severely blocked.Are there medicines to cure HSS?
No cure; medicines treat symptoms (e.g., eye drops for glaucoma).Is life expectancy reduced?
Most individuals live into adulthood with proper care.Can HSS be detected before birth?
Rarely; severe facial anomalies may be seen on ultrasound.How often should eyes be checked?
At least every 3–6 months in infancy, then annually.Will hair grow back?
Hair is usually thin; treatments help but full regrowth is unlikely.Is surgery painful?
Procedures use general anesthesia and pain control.Can siblings be tested?
Genetic tests aren’t available; clinical exam only.What specialists are needed?
ENT, ophthalmology, dentistry, genetics, pulmonology.Are support groups available?
Yes; e.g., Schattenkinder e.V. in Germany Wikipedia.Where can I find more information?
NIH GARD and Orphanet websites.
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: August 05, 2025.
