Hallermann-Streiff syndrome

What causes Hallermann-Streiff syndrome?

The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.

Last updated on 05-01-20

Last updated on 05-01-20

Is genetic testing available for Hallermann-Streiff syndrome?

While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-Streiff syndrome click here. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetics professional to learn more about research testing for this condition.

Last updated on 05-01-20

How is Hallermann-Streiff syndrome inherited?

The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears to be inherited in an autosomal recessive manner in a small number of cases, others have argued that there is little evidence for this being a recessively inherited disorder. Therefore, the mode of inheritance of the condition remains unclear.

Last updated on 05-01-20

What is Hallermann-Streiff syndrome?

Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.

Last updated on 05-01-20

Last updated on 05-01-20

How might Hallermann-Streiff syndrome be treated?

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.

With respect to dental anomalies, natal/neonatal teeth (teeth present at birth) may be incorrectly diagnosed as extra teeth and there may be a tendency to extract them. However, the loss of teeth may worsen glossoptosis (posteriorly location of the tongue) or cause other complications. It has thus been recommended to preserve prematurely erupting teeth to facilitate eating until the existence of successional permanent teeth can be confirmed. Ensuring good dental hygiene is also important.

Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly the mandibular and nasal region) at the appropriate age. For some affected infants and children with heart defects, medical treatment and/or surgical intervention may be recommended.

Last updated on 05-01-20

Name: Little People of America, Inc. 617 Broadway #518
Sonoma, CA, 95476, United States
Phone: +1-714-368-3689 Toll Free: 1-888-572-2001 Fax : +1-707-721-1896 Email: info@lpaonline.org Url: https://www.lpaonline.org/
Name: National Foundation for Ectodermal Dysplasias 6 Executive Drive Suite 2
Fairview Heights, IL, 62258-1360, United States
Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: info@nfed.org Url: https://www.nfed.org/
Name: The Ectodermal Dysplasia Society Unit 1 Maida Vale Business Centre Leckhampton
Cheltenham Gloucestershire GL53 7ER
United Kingdom
Phone: +44 (0) 1242 261332 Email: info@edsociety.co.uk Url: https://edsociety.co.uk/
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: contactCCA@ccakids.com Url: https://ccakids.org/
Hallermann Streiff Syndrome National Organization for Rare Disorders (NORD). Updated 2018; Reference Link Schmidt J, Wollnik B Dec 2018; 178(4):398-406. Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome Am J Med Genet C Semin Med Genet. Dec 2018; 178(4). 398-406. Reference Link Mallick A, Singh RK, Thapar RK. Hallermann-Streiff syndrome: 'Bird faced' but not 'bird brained' Med J Armed Forces India.. Apr 2018; 74(2). 193-195. Reference Link Chen CL, Peng J, Jia XG, Liu ZW, Zhao PQ. Hallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption Int J Ophthalmol. Jun 18, 2017; 10(6). 1016-1018. Reference Link Dulong A, Bornert F, Gros CI & cols. Diagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient The Cleft Palate-Craniofacial Journal. 2018; 55(10). 1458-1466. Reference Link Srivasan LP, Viswanathan J. Hallermann-Streiff syndrome: Difficulty in airway increases with increasing age J Clin Anesth. Nov 2018; 50:1. Epub. Reference Link

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