Learn all about Hallermann-Streiff syndrome (HSS).
Hallermann-Streiff syndrome was first described in the medical literature in 1893. The disorder was named for two investigators (Hallermann, 1948; Streiff, 1950; Francois, 1958) who later independently reported cases of the syndrome, recognizing it as a distinct disease entity.
The faces are sometimes described as ‘bird-like’ with a beaked nose, brachycephaly, and micrognathia. Patients have skin atrophy, dwarfism, various eye abnormalities, and hypotrichosis.
A person with complaints of fever, cough, and failure to thrive, detected microphthalmia, bilateral leukocoria, cataract, eyebrow hypotrichosis, a prominent nose, and depressed nasal root. The patient was diagnosed with Hallermann-Streiff syndrome.
Natal and neonatal teeth frequently occur in children born with a cleft lip and palate. In these children, the teeth are situated in the maxilla, on each side of the alveolar cleft(s). They serve no purpose, and should be extracted as soon as possible. Their extractions are not difficult, as they are attached to the mucosa only, and a minimum of local anesthetic is required. The teeth are not really extracted, but are carefully separated from the gum, and then removed by the use of gauze rather than by the classic pliers to prevent the baby from aspirating or swallowing them.
What is Hallermann-Streiff syndrome (HSS)?
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature. Mental retardation is present in a minority of cases Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature.
Hallermann-Streiff syndrome Symptoms
The principal features of Hallermann-Streiff syndrome include abnormalities of the skull (cranium) and certain bones of the face (known as dyscephaly); distinctive facial features; ocular defects; dental anomalies; and/or proportionate short stature. In many cases, additional abnormalities are also present.
- Congenital cataract
- Convex nasal ridge
- Dermal atrophy
- Frontal bossing
- Proportionate short stature
- Reduced bone mineral density
- Rib exostoses
- Short ribs
- Sparse body hair
- Abnormality of hair texture
- Abnormality of the fontanelles or cranial sutures
- High, narrow palate
- Increased number of teeth
- Malar flattening
- Narrow mouth
- Natal tooth
- Recurrent fractures
- Sparse and thin eyebrow
- Sparse eyelashes
- Underdeveloped nasal alae
- Visual impairment
- Abdominal situs inversus
- Abnormality of cardiovascular system morphology
- Cerebellar hypoplasia
- Choanal atresia
- Clinodactyly of the 5th finger
- Congestive heart failure
- Intellectual disability
- Respiratory insufficiency
- Short foot
- Small hand
Natal and Neonatal Teeth Absence
Natal teeth are said to be three times more common than neonatal teeth. There appears to be an inherited tendency to developing natal teeth with up to 60% of cases reporting a positive family history with an autosomal dominant pattern (meaning about half the children of an affected individual are affected). Any teeth present at birth are defined as natal teeth. Neonatal teeth are teeth that appear in the first 30 days after birth. Teeth normally begin to erupt from 6 months of age. Natal teeth and neonatal teeth are frequently found associated with developmental abnormalities and recognized syndromes.
These syndromes include Ellis-van Creveld (chondroectodermal dysplasia), pachyonychia congenita (Jadassohn-Lewandowsky), Hallerman-Streiff (occulo-mandibulo dyscephaly with hypotrichosis), Rubinstein-Taybi, steatocystoma multiplex, Pierre-Robin, cyclopia, Pallister-Hall, short rib-polydactyly type II, Wiedeman-Rautenstrauch (neonatal progeria), cleft lip and palate, Pfeiffer, ectodermal dysplasia, craniofacial dysostosis, multiple steacystoma, Sotos, adrenogenital, epidermolysis bullosa simplex including van der Woude and Walker-Warburg Syndromes. The natal teeth; are small, or of normal size, conical/or of normal shape. They may reveal an immature appearance with enamel hypoplasia and small root formation. Natal teeth may exhibit a brown-yellowish/whitish opaque color. The occurrence of natal and neonatal teeth is an uncommon anomaly, which for centuries has been associated with diverse superstitions among different ethnic groups.
Hallermann-Streiff syndrome Cause
The genetic cause of Hallermann-Streiff syndrome is not understood and most cases occur randomly for unknown reasons (sporadically). It may be associated with GJA1. 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.
Individuals who have HSS may pass on the disorder to their children. 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.
Hallermann-Streiff syndrome Diagnosis
Hallermann-Streiff syndrome at birth is diagnosed by ophthalmologists because of the subnormal vision or the appearance of the cataracts as ‘white pupils’. These often require removal during infancy to prevent amblyopia. 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.
Hallermann-Streiff syndrome Treatment
Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients. Although early surgical removal of cataracts may be recommended to help preserve vision, some studies have suggested that spontaneous cataract absorption may occur in up to 50% of untreated patients. Regular appointments with an ophthalmologist are strongly recommended to identify and treat other eye abnormalities, some of which may require surgical intervention.