Hallermann-Streiff syndrome

Related Terms

Cataracts, ectodermal dysplasia, Fran?ois dyscephaly syndrome, genetic mutation, Hallermann-Streiff-Francois syndrome, HSS, hypotrichosis, microphthalmia, obstructive sleep apnea, oculomandibulodyscephaly with hypotrichosis, oculomandibulofacial syndrome, sutural congenital alopecia.

Background

Hallermann-Streiff syndrome (HSS) is a form of ectodermal dysplasia, a group of syndromes deriving from abnormalities of the ectodermal structures (which include the hair, teeth, nails, sweat glands, eyes, face, and skull) that arise from the outer cell layer of a developing embryo. These are genetic disorders that may be inherited in an autosomal dominant or recessive manner.
HSS was first described in the medical literature in 1893. It was first reported by Hallermann in 1948 and by Streiff in 1950, when they observed patients with certain distinctive characteristics, including a birdlike face, in which the nose appears thin, sharp, and hooked; a prominent forehead; and an absent prominence of the chin when viewed from the side. Individuals with HSS may develop cataracts, a clouding that develops in the lens of the eye that may progress to vision loss if left untreated. Other characteristics of HSS include an underdeveloped jaw and dental defects, including the presence of natal teeth at birth and the absence or malformation of teeth; hypotrichosis (sparse hair); atrophy (degenerative skin changes), particularly in the scalp and nasal regions; short stature (i.e., dwarfism); and microphthalmia (unusually small eyes). HSS is a rare genetic disorder that is usually not inherited from, or passed down among, family members. HSS seems to occur randomly for unknown reasons, and may be the result of a mutation (a change to genetic material). Most cases of HSS are caused by a spontaneous genetic mutation or defect in the egg, sperm cells, or developing embryo. The pattern of inheritance in HSS is subject to some controversy. The genetic mutation that causes HSS has not yet been identified. It is possible that an elongation of one of the arms of the 10th chromosome may be a cause of HSS. This elongation was identified in one infant with symptoms of HSS. However, in other patients with symptoms of HSS, chromosomal analysis appeared normal. It has also been proposed that an increased rate in chromosomal breakage may explain the existence of some deoxyribonucleic acid (DNA) repair defects in HSS patients.
By 1981, about 150 cases of HSS had been reported in the available scientific literature. Since then, about 10 more cases have been reported. HSS appears to affect males and females in equal numbers. No race or ethnicity appears to be more affected than any other.
People with HSS are usually of normal intelligence and may have normal life expectancies. There is no cure for HSS, and treatment aims to reduce symptoms and prevent or treat complications.

Signs and symptoms

Eyes: People with Hallermann-Streiff syndrome (HSS) are usually born with cataracts, a clouding of the eye lens. This is the most common reason for an initial visit to the eye doctor, at which point, HSS may first be suspected. In addition, people with HSS may have small eyes, crossed eyes, nystagmus (involuntary eye movements), decreased visual clarity, and partial or complete vision loss.
Face and skull: People with HSS generally have a small but broad head. Babies may have large fontanelles (soft spots on their head). HSS is also characterized by distinctive facial features, including a prominent forehead, flat cheekbones, a beak-shaped nose, a small mouth and lower jaw, and a narrow, high-arched roof of the mouth.
Growth: Growth is generally delayed in people with HSS. The collarbone and ribs may be underdeveloped. In addition, many people with HSS are of short stature. The average final height for males with HSS is about 61 inches, while the average final height for females with HSS is 60 inches.
Hair: People with HSS generally have sparse hair on the head and body. Hair may be absent on the front and sides of the head. Eyebrows and eyelashes may also be sparse.
Heart: Some patients with HSS may develop heart problems, such as a hole in the heart.
Skin: The skin tends to be underdeveloped and thin in people with HSS. The skin on the scalp may appear especially thin and tight, and veins may be visible.
Teeth: Dental problems are common in HSS. Some infants are born with teeth (called natal teeth). Other problems include the presence of extra teeth, the absence of teeth, poorly aligned teeth, underdeveloped enamel, and frequent cavities.
Other: About one-third of patients with HSS are born prematurely or at a low birthweight. Some patients (15-30%) with HSS may have an intellectual disability, but most are of normal intelligence. Hyperactivity and seizures have been reported but remain rare. Other rare symptoms may involve the urinary and reproductive systems.

Diagnosis

General: Diagnosis of Hallermann-Streiff syndrome (HSS) is generally made after observation of the distinctive physical characteristics of the head, hair, face, eyes, mouth, teeth, and skin. In addition, a complete physical exam and a thorough family history should be completed.
While genetic testing is available for some forms of ectodermal dysplasia, no such tests are currently available for Hallermann-Streiff syndrome. Without definitive genetic tests for Hallermann-Streiff syndrome, there may be a small chance that the symptoms of this condition may be mistaken for those of another ectodermal dysplasia.
Imaging: Imaging studies such as X-rays may help clinicians see the underdeveloped bones often found in HSS. X-rays may also help clinicians view dental defects, such as missing or underdeveloped teeth and poor alignment of the upper and lower jaws. It may be possible to observe physical characteristics associated with HSS in a fetus using ultrasound, but this has not been reported in the scientific literature.
Ultrasound biomicroscopy: Ultrasound biomicroscopy, a method to examine the eye at a microscopic level, may be able to detect changes in the lens of the eye that cannot be observed by conventional equipment.

Complications

Breathing problems: Breathing problems and lung infections may occur in Hallermann-Streiff syndrome (HSS), because of malformations of the nose and jaw and possibly other structures of the upper airway. Snoring or obstructive sleep apnea may also occur. Sleep apnea may cause excessive daytime sleepiness, cognitive problems, increased accident risk, and stroke.
Breathing problems may also cause cor pulmonale, a change in the structure of the right ventricle in the heart. Right ventricular hypertrophy is the predominant change in cor pulmonale, which occurs as a result of blood not flowing well from the heart to the lungs, placing extra stress on the right ventricle. This condition may be life threatening.
Dental problems: People with HSS may experience dental problems from poorly developed and missing teeth. These may include cavities and further tooth loss.
Feeding problems: The structural problems seen in HSS may also make feeding difficult. This may occasionally lead to aspiration, in which food or liquid is inhaled into the lungs.
Vision problems: Despite surgical intervention, eye problems often seen in HSS, such as cataracts (clouding of the lens of the eye), may lead to partial or complete vision loss. There have also been a few reports of retinal detachment (separation of the retina from support tissues) following surgery to remove cataracts.

Treatment

There is no cure for Hallermann-Streiff syndrome (HSS). Instead, treatment aims to manage symptoms and prevent or treat complications. People with HSS should be regularly seen by an ophthalmologist, lung specialist, dermatologist, geneticist, dentist, orthodontist, various surgeons, and/or cardiologist, based on individual symptoms.
Cosmetic/plastic surgery: Some people with HSS may choose to have cosmetic surgery to correct the abnormal facial appearance associated with this syndrome, particularly to correct the abnormalities of the nose and chin.
Dental care: People with HSS should practice good preventive dental care, including brushing their teeth at least twice daily and flossing once daily, seeing the dentist every six months, and avoiding cavity-causing foods and beverages.
Dental surgery: Tooth extraction, scaling of the teeth and gums to remove plaque and tartar, and reconstructive surgery may be performed in people with HSS, depending on the severity of symptoms and patient preference. Partial or full dentures may be used for patients with HSS who are missing teeth.
Education: By law, patients with HSS must have access to education that is tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act (IDEA 2004), all children with disabilities must receive free and appropriate education until the age of 18 or 21. According to the law, staff members of the patient's school should consult with the patient's parents or caregivers to design and write an individualized education plan. The school faculty must document the child's progress in order to ensure that the child's needs are being met.
Educational programs vary among patients. In general, most experts believe that children with disabilities should be educated alongside their nondisabled peers. The idea is that nondisabled students will help the patient learn appropriate behavioral, social, and language skills. Therefore, some HSS patients are educated in mainstream classrooms. Others attend public schools but take special education classes. Still others attend specialized schools that are equipped to teach children with disabilities.
Eye surgery: Surgery on the eyes may correct cataracts (clouding of the lens of the eye) and strabismus (crossed eyes). Despite surgical intervention, some eye problems often seen in HSS, such as cataracts, may lead to partial or total vision loss. There have also been a few reports of retinal detachment following surgery to remove cataracts.
Physical/occupational therapy: HSS patients may also benefit from occupational and physical therapy. These therapies may help patients with HSS improve their physical abilities and their ability to perform daily functions to increase their independence.
Right ventricular hypertrophy: Depending on the individual symptoms and complications in people with HSS, prescription drugs, such as beta-blockers, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), diuretics, and digoxin, may be used to treat right ventricular hypertrophy
Beta-blockers: Possible adverse effects include low blood pressure, difficulty breathing, sexual dysfunction, nausea, and weakness with exertion.
ACE Inhibitors: Possible adverse effects include chronic, nonproductive cough (in about 10% of patients), dizziness or weakness (caused by low blood pressure), increased potassium levels, skin rashes, and sudden swelling of the lips, face, and cheeks (if this occurs, the patient must seek medical attention immediately).
Angiotensin receptor blockers: Possible adverse effects include headache, drowsiness, diarrhea, and a metallic or salty taste in the mouth.
Diuretics: Possible adverse effects include frequent urination and low potassium blood levels.
Digoxin: Adverse effects are rare but may include blurred vision, cardiac problems (such as arrhythmias or heart block), diarrhea, headaches, loss of appetite, hypotension (low blood pressure), and nausea and vomiting.
Sleep apnea study: People with HSS who snore or have excessive daytime sleepiness may have obstructive sleep apnea and should be referred to a sleep specialist for assessment. Mild sleep apnea may be managed by changing sleeping position and habits. Treatment of more severe sleep apnea may include surgery such as a tracheotomy (surgical opening of the windpipe) or a tonsillectomy (removal of the tonsils) to clear the airway, or the use of a CPAP (continuous positive airway pressure) machine, which delivers oxygen while the patient sleeps, Because of structural limitations of the upper airway, people with HSS may experience problems if a breathing tube is inserted. Patients using CPAP machines may also be prescribed drugs that can help reduce daytime drowsiness (e.g., Provigil? or Novigil?). The adverse effects of these drugs may include headache, nausea, back pain, nervousness, anxiety, upset stomach, dizziness, and inflammation of the nose tissues.
Speech language therapy: Some patients with HSS may benefit from speech-language therapy. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom, to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.
Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
On average, patients receive five or more hours of therapy per week for three months to several years. Doctors typically recommend that treatment be started early to ensure the best possible outcome for the child.
Support groups: Individuals with HSS and their families may benefit from participation in support groups that help them cope with looking different from other people. Those who lose their vision may benefit from support groups for the visually impaired.

Integrative therapies

Currently there is a lack of scientific evidence on the use of integrative therapies for the treatment or prevention of Hallermann-Streiff syndrome (HSS).

Prevention

Because most cases of Hallermann-Streiff syndrome (HSS) occur as spontaneous mutations, there is no known means of preventing the disorder. Although the exact gene that causes HSS and its inheritance pattern is unknown, genetic counselors may help prospective parents with HSS or with a family history of the disorder understand the potential risks of passing it on to their children.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

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Christian CL, Lachman RS, Aylsworth AS, et al. Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. Am J Med Genet. 1991;41(4):508-14.
David LR, Finlon M, Genecov D, et al. Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. J Craniofac Surg. 1999 Mar;10(2):160-8.
Defraia E, Marinelli A, Alarashi M. Case report: orofacial characteristics of Hallermann-Streiff syndrome. Eur J Paediatr Dent. 2003 Sep;4(3):155-8.
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Causes

Random occurrence: Most cases of Hallermann-Streiff syndrome (HSS) occur in individuals with no family history of the disorder. This happens as the result of a spontaneous mutation in the egg, sperm cells, or developing embryo. It is possible that an elongation of one of the arms of the 10th chromosome may be a cause of HSS. This elongation was identified in one infant with symptoms of HSS. However, in other patients with symptoms of HSS, chromosomal analysis appeared normal.
Inheritance: Individuals who have HSS may pass on the disorder to their children. In the rare cases of inheritance, it has been proposed that HSS was passed on in an autosomal dominant manner. However, the pattern of inheritance has not been fully determined.
Autosomal dominant inheritance: Individuals receive two copies of most genes, one from the mother and one from the father. If HSS is inherited as an autosomal dominant trait, then an individual needs to inherit only one copy of the defective gene for the disease to appear. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.
Autosomal recessive inheritance: If HSS is inherited as an autosomal recessive trait, then an individual must inherit two copies of the defective gene, one from each parent, for the disease to appear. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers, because they may pass on the disorder to their children.
If one parent is a carrier, or has only one copy of the defective gene, then each child will have a 50% chance of inheriting one defective gene and also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have the disorder.

Risk factors

Hallermann-Streiff syndrome (HSS) is a rare genetic disorder. However, most cases occur in individuals with no family history of the disorder. This happens as the result of a spontaneous mutation in the egg, sperm cells, or developing embryo.
Rare occurrences of familial transmission of HSS have been documented, and it has been proposed that this transmission occurs in an autosomal dominant pattern.