Introduction
Hallermann-Streiff syndrome (HSS) is a rare condition that affects the skull, face, hair, eyes, teeth, skin, and height. People with HSS may have a short, broad head with a prominent forehead and narrow nose, a small or underdeveloped lower jaw, and a narrow, highly arched roof of the mouth. They may also have clouding of the lenses of the eyes at birth, small eyes, and dental defects such as missing or misaligned teeth. HSS is caused by a new genetic change and seems to happen randomly.
What Is the Cause?
The exact cause of Hallermann-Streiff syndrome (HSS) is not fully understood, but it is believed to be the result of a new genetic mutation that occurs spontaneously (de novo) during embryonic development. This means that the genetic mutation is not inherited from either parent but instead arises spontaneously in the affected individual. The specific gene or genes involved in HSS are not yet known, but research suggests that the condition may be caused by mutations affecting genes that play a role in the development of the skull, face, hair, eyes, teeth, and skin. Some cases of HSS have been associated with abnormalities in chromosome 4, but not all individuals with HSS have these chromosomal abnormalities. It is important to note that HSS is not caused by anything the affected individual or their parents did or did not do, and there is no known way to prevent the condition.
What Are the Signs and Symptoms?
Some of the signs and symptoms associated with HSS include:
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Skull and Facial Malformations: Individuals with HSS may have a short, broad head (brachycephaly) with an unusually prominent forehead and sides of the skull (dyscephaly); a small, underdeveloped lower jaw (hypoplastic mandible); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose.
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Sparse Hair: Hypotrichosis, or sparse hair, is another common symptom of HSS, and it is often present from birth.
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Eye Abnormalities: Clouding of the lenses of the eyes at birth (congenital cataracts or corneal stromal opacities); unusually small eyes (microphthalmia); and other ocular abnormalities (glaucoma, retinal detachments) are frequently seen in individuals with HSS.
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Dental Defects: Dental defects may include natal or neonatal teeth, delayed tooth eruption, enamel hypoplasia (defect of the teeth in which the enamel is deficient in quantity), absent permanent teeth (hypodontia or partial anodontia), abnormal tooth development resulting in short roots and early loss of teeth, or improper alignment of teeth.
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Skin Atrophy: Individuals with HSS may experience degenerative skin changes (atrophy), particularly in the scalp and nasal regions.
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Proportionate Short Stature: HSS can also cause proportionate short stature, which means that a person's arms, legs, and torso are all shorter than those of an average person of the same age and gender.
How to Diagnose Hallermann-Streiff Syndrome?
The diagnosis of Hallermann-Streiff syndrome (HSS) is usually based on a combination of clinical evaluation, medical history, and genetic testing. A physical examination may reveal characteristic craniofacial features, sparse hair, dental defects, and other abnormalities associated with HSS. Medical imaging studies, such as X-rays or CT (computed tomography) scans, may also be used to evaluate the skull and facial bones, as well as the eyes and teeth. Genetic testing, such as chromosomal analysis or molecular genetic testing, may be used to confirm the diagnosis and identify the specific genetic mutation responsible for HSS. Due to the rarity of HSS, it is important that individuals suspected of having this condition seek evaluation and diagnosis from a healthcare professional with expertise in diagnosing and managing rare genetic disorders.
What Are the Treatment Options?
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The approach to treating Hallermann-Streiff syndrome depends on the specific symptoms that a patient presents with. The care of individuals with this syndrome may require the involvement of a team of medical professionals such as pediatricians, craniofacial surgeons, ophthalmologists, dental specialists, and other healthcare providers.
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For infants who experience respiratory and feeding difficulties, early management includes monitoring breathing, the consideration of tracheostomies, and supportive measures to ensure sufficient nutrient intake. Early surgical removal of cataracts may be recommended to preserve vision, but it may not always be necessary as cataract absorption may occur spontaneously in some patients. Regular ophthalmology follow-up is essential to identify and treat other eye abnormalities that may require surgical intervention. Dental anomalies must be managed appropriately to prevent complications related to oral cavity dimensions and the development of dental caries.
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Surgical reconstruction may be necessary for craniofacial malformations, particularly in the mandibular and nasal regions, at the appropriate age. However, patients may have a risk of anesthetic complications due to upper airway obstruction, making intubation challenging. For infants and children with heart defects, surgical intervention or medical treatment may be recommended based on the nature and severity of the anatomical abnormalities.
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Early intervention is crucial to ensuring that individuals with Hallermann-Streiff syndrome reach their full potential. Special services such as remedial education, social support, physical therapy, and other medical and vocational services may be beneficial.
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Affected individuals and their families could benefit from genetic counseling. Any other treatment is focused on relieving and supporting specific symptoms.
At What Stage Do the Symptoms of Hallermann-Streiff Syndrome Manifest?
The indications of this condition can present themselves during infancy or shortly after birth.
The onset of symptoms can vary across different illnesses, with some starting within a specific age group or spanning multiple age groups. In certain diseases, symptoms can emerge at any age. Understanding when the symptoms first appeared can assist healthcare professionals in making an accurate diagnosis.
Conclusion
Hallermann-Streiff syndrome (HSS) is a rare genetic condition that affects multiple parts of the body, including the skull, face, hair, eyes, teeth, skin, and height. The exact cause of HSS is not fully understood, but it is believed to be the result of a new genetic mutation that occurs spontaneously during embryonic development. The diagnosis of HSS is based on clinical evaluation, medical history, and genetic testing, and treatment depends on the specific symptoms that a patient presents with. In order for people with HSS to attain their full potential, early intervention is essential. Affected people and their families may gain from genetic counseling. Overall, healthcare professionals with expertise in diagnosing and managing rare genetic disorders should be consulted for the evaluation and diagnosis of individuals suspected of having HSS.
