Hallermann-Streiff syndrome HSS is a very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features such as microphthalmia and congenital bilateral cataracts. The disease was first discussed by Aubry in the late s, but it was documented as a distinct entity by Hallermann in and Streiff in To date, approximately cases have been reported worldwide . The inheritance pattern of HSS is ill defined and males and females are equally affected. The vast majority of cases are attributed to sporadic mutations, but there have been a few rare familial cases reported as well. Two cases of monozygotic twins have been described, where 1 set had both twins affected while the other had only 1 twin affected .
|Published (Last):||24 July 2006|
|PDF File Size:||8.62 Mb|
|ePub File Size:||7.95 Mb|
|Price:||Free* [*Free Regsitration Required]|
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist.
We also encourage you to explore the rest of this page to find resources that can help you find specialists. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.
Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD. These resources provide more information about this condition or associated symptoms.
The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. National Institutes of Health. COVID is an emerging, rapidly evolving situation.
Menu Search Home Diseases Hallermann-Streiff syndrome. You can help advance rare disease research! This disease is grouped under:. Ectodermal dysplasia. Summary Summary. Symptoms Symptoms. The main features of Hallermann-Streiff syndrome include an unusually shaped skull and face, and abnormalities of the eyes, teeth, skin and hair. Many of the features are apparent at birth and vary from individual to individual.
Issues with premature aging and difficulty with airway managment have been reported. Most people with this condition have normal intelligence. Showing of 91 View All. Hair loss. Short and broad skull. Beaked nose. Beaklike protrusion. Hooked nose. Polly beak nasal deformity. Skin degeneration. Clouding of the lens of the eye at birth. Abnormally small eyeball. Low solidness and mass of the bones. Retraction of the tongue. Narrow, high-arched roof of mouth. Narrow, highly arched roof of mouth.
Extra teeth. Increased tooth count. Supplemental teeth. Zygomatic flattening. Little lower jaw. Small jaw. Small lower jaw. Small mouth. Born with teeth. Teeth present at birth. Increased fracture rate. Increased fractures. Multiple fractures. Multiple spontaneous fractures. Varying degree of multiple fractures. Thin, sparse eyebrows. Scant eyelashes. Scanty eyelashes. Thin eyelashes. Corners of eye widely separated. Underdeveloped tissue around nostril. Impaired vision. Loss of eyesight.
Poor vision. Small cerebellum. Underdeveloped cerebellum. Blockage of the rear opening of the nasal cavity. Obstruction of the rear opening of the nasal cavity. Permanent curving of the pinkie finger. Cardiac failure. Cardiac failures. Heart failure. Undescended testes. Undescended testis. Underactive thyroid. Mental deficiency. Mental retardation. Mental retardation, nonspecific. Abnormally small skull. Decreased circumference of cranium.
Decreased size of skull. Reduced head circumference. Small head circumference. Close sighted. Near sighted. Near sightedness. Involuntary, rapid, rhythmic eye movements. Respiratory impairment.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies with beak-shaped nose and retrognathia , hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities e.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources.
Hallermann—Streiff syndrome is a congenital disorder that affects growth, cranial development , hair growth and dental development. There are fewer than people with the syndrome worldwide. Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. Patients also have eye problems including reduced eye size , bilateral cataracts  and glaucoma. The syndrome can be associated with sleep apnea.