Hallermann-Streiff Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Hallermann-Streiff Syndrome?
A pediatric geneticist, a doctor who finds inherited causes of health problems in children, often helps lead care. Treatment may need a team that includes pediatricians, craniofacial surgeons (surgeons for the skull and face), eye specialists, and dental specialists. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Hallermann-Streiff syndrome?
Hallermann-Streiff syndrome (HSS) is a rare disorder. It mainly affects the shape of the skull and face, the hair, the eyes, the teeth, and growth. It affects males and females in about equal numbers.
Symptoms
Signs differ from person to person. Common features include:
- A short, broad head with a prominent forehead, and a small lower jaw.
- A narrow, pointed nose that can become more curved, or beaked, with age.
- Very sparse hair on the scalp, eyebrows, and eyelashes.
- Thin, tight skin on the scalp and nose.
- Clouding of the lenses of both eyes at birth, called cataracts, and unusually small eyes.
- Teeth that come in before or soon after birth, late permanent teeth, underdeveloped tooth roots, and early tooth decay.
- Slow growth after birth, leading to short stature, which affects about two thirds of people.
A small jaw and narrow nose can block the upper airway, the passage that carries air to the lungs. This can cause feeding, swallowing, and breathing problems in young children. Eye problems can cause some vision loss or, in some cases, blindness.
Most children with this condition have normal intelligence.
Causes and who gets it
In almost all cases, HSS seems to happen at random for unknown reasons. It is most likely caused by a new change in the genes, called a mutation. How it is passed on is still unclear, so the chance of it happening again in a family is hard to know.
How doctors diagnose it
Doctors may suspect HSS shortly after birth or in the first year of life, based on the signs they see.
They confirm it with a careful exam, the health history, and tests such as x-rays, eye exams, and dental studies. Cataracts together with unusually small eyes are important clues. Other disorders look similar, so doctors may also use a broad gene test called whole exome sequencing.
One list of seven main signs includes an unusual head and face shape, dental problems, short stature in proportion, sparse hair, thin skin on the nose, small eyes, and cataracts at birth.
Treatment
Treatment depends on the signs each person has. For babies with feeding and breathing trouble, doctors watch breathing closely and support feeding. They may consider a tracheostomy, an opening through the neck into the windpipe that holds a tube to keep the airway open.
- Eyes: early surgery to remove cataracts may be recommended to help save vision. Some doctors wait, because cataracts sometimes clear up on their own.
- Regular eye checkups are strongly recommended to find and treat other eye problems.
- Teeth: children need frequent visits with a pediatric dentist and good dental hygiene. Whenever possible, baby teeth present at birth should be kept.
- Surgery to rebuild parts of the jaw and nose may be done at the right age.
- Some children may need heart treatment if they have a heart defect.
Some people have a higher risk of problems with anesthesia, because a breathing tube can be hard to place. Surgeons and anesthesiologists need to plan for this.
Early help is important so children can reach their potential. Helpful services include special education, social support, and physical therapy. Genetic counseling may also help affected people and their families.
When to see a doctor
See a doctor if your baby has trouble feeding or swallowing, or has breathing problems. A narrow upper airway can cause life-threatening problems in severe cases.
Call 911 or go to the emergency room if a child has severe trouble breathing, or if breathing stops.
Children with HSS also need regular eye and dental checkups.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. For HSS, such a doctor can do an evaluation, keep track of your child's care over time, and help coordinate visits with genetic, eye, dental, and surgical specialists.
Common questions
Is Hallermann-Streiff syndrome inherited?
It is not clear how it is passed on. In almost all cases, it seems to happen at random, most likely because of a new gene change. Because how it is passed on is unclear, the chance of it happening again in a family is hard to know. Genetic counseling may help families.
Do children with Hallermann-Streiff syndrome have normal intelligence?
Most do. Intellectual disability has been reported in about 15 percent of cases.
Can Hallermann-Streiff syndrome cause breathing problems?
Yes, it can. A small jaw and narrow nose can block the upper airway, especially in newborns and infants. Doctors may watch breathing closely and sometimes consider a tracheostomy.
Does Hallermann-Streiff syndrome affect vision?
Yes, it often does. The most common finding is clouding of the lenses of both eyes at birth. Regular eye checkups help doctors find and treat other eye problems early.
Sources
- National Organization for Rare Disorders (NORD) - Hallermann-Streiff Syndrome
- National Library of Medicine (PubMed Central) - Hallermann-Streiff Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
