Hallermann–Streiff syndrome is a

congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

that affects growth, cranial development, hair-growth, and dental development. There are fewer than 200 people with the

syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired ...

worldwide. One notable organization that is supporting people with Hallermann–Streiff syndrome is the Germany-based "Schattenkinder e.V".

Presentation

Patients with this

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

cataract A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble w ...

s and

glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...

. The syndrome can be associated with

sleep apnea Sleep apnea, also spelled sleep apnoea, is a sleep disorder in which pauses in breathing or periods of shallow breathing during sleep occur more often than normal. Each pause can last for a few seconds to a few minutes and they happen many times ...

. The physical characteristics of the syndrome can result in difficult

intubation Intubation (sometimes entubation) is a medical procedure involving the insertion of a tube into the body. Patients are generally anesthetized beforehand. Examples include tracheal intubation, and the balloon tamponade with a Sengstaken-Blakemo ...

by medical professionals. Intelligence is usually normal.

Cause

The genetic cause of Hallermann–Streiff syndrome has not been conclusively determined. It is most likely due to a ''de novo'' mutation, and it may be associated with the ''

GJA1 Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the ''GJA1'' gene on chromosome 6. As a connexin, GJA1 is a component of gap junctions, which allow for gap junction intercellular ...

'' gene.

Diagnosis

Diagnosis is based on the physical characteristics and symptoms. There is no established clinical

genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...

for Hallermann–Streiff syndrome, however some laboratories offer research genetic testing for the condition.

Treatment

There is no cure for Hallermann–Streiff syndrome. Treatments center around the particular symptoms in each individual. Early measures are based around ensuring proper breathing and intake of nutrients and may include a

tracheostomy Tracheotomy (, ), or tracheostomy, is a surgical airway management procedure which consists of making an incision (cut) on the anterior aspect (front) of the neck and opening a direct airway through an incision in the Vertebrate trachea, trache ...

. Early surgery for

cataracts A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble w ...

may be recommended, however some studies have suggested that spontaneous resolution of cataracts occurs in up to 50% of untreated patients. Regular visits to an

ophthalmologist Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Followin ...

to monitor and deal with other eye problems, some of which may require surgery, are strongly recommended. Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly in the

mandibular In anatomy, the mandible, lower jaw or jawbone is the largest, strongest and lowest bone in the human facial skeleton. It forms the lower jaw and holds the lower tooth, teeth in place. The mandible sits beneath the maxilla. It is the only movabl ...

and nasal region) at an appropriate age. Additionally, management for certain heart defects, such as medication or surgery, may be needed.

History

It is named after German ophthalmologist

Wilhelm Hallermann Wilhelm may refer to: People and fictional characters * William Charles John Pitcher, costume designer known professionally as "Wilhelm" * Wilhelm (name), a list of people and fictional characters with the given name or surname Other uses * Mount ...

(1909–2005) and Italian–Swiss ophthalmologist Enrico Bernardo Streiff (1908–1988), who first described the syndrome in 1948 and 1950 respectively.

References

12. Shandilya VK, Parmar LD, Shandilya AV. Functional ambulation with bent knee prostheses for an adult with bilateral 90 degrees knee flexion contractures—A case report. J Family Med Prim Care erial online2020 ited 2020 Jun 29:2492-5. Available from: http://www.jfmpc.com/text.asp?2020/9/5/2492/285055

External links

Jablonski's Syndrome Database
{{DEFAULTSORT:Hallermann-Streiff syndrome Ailments of unknown cause Rare diseases Syndromes affecting the eye Congenital disorders of eye, ear, face and neck Congenital disorders of musculoskeletal system Syndromes affecting stature