Hallermann–Streiff syndrome is a

congenital disorder A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

that affects the eyes, general 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 language, Greek σύνδρομον, meaning "concurrence". When a sy ...

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 (anatomy), lens of the eye that leads to a visual impairment, decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or ...

s and

glaucoma Glaucoma is a group of eye diseases that can lead to damage of the optic nerve. The optic nerve transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of ...

. The syndrome can be associated with

sleep apnea Sleep apnea (sleep apnoea or sleep apnœa in British English) is a sleep-related breathing disorder in which repetitive Apnea, pauses in breathing, periods of shallow breathing, or collapse of the upper airway during sleep results in poor vent ...

. 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. Most commonly, intubation refers to tracheal intubation, a procedure during which an endotracheal tube is inserted into the trachea to supp ...

by medical professionals. Intelligence is usually normal.

Cause

This syndrome is hypothesized to be caused by a ''de novo'' mutation in 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 which encodes the

connexin Connexins (Cx)TC# 1.A.24, or gap junction proteins, are structurally related transmembrane proteins that assemble to form vertebrate gap junctions. An entirely different family of proteins, the innexins, forms gap junctions in invertebrates. Eac ...

43 protein. Further studies are needed to confirm or deny the role of connexin proteins in this disorder.

Diagnosis

Diagnosis is based on the physical characteristics and symptoms.

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 on the front of the neck to open a direct airway to the trachea. The resulting stoma (hole) can serve independently as an airway ...

. Early surgery for

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

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 the branch of medicine that deals with the diagnosis, treatment, and surgery of eye diseases and disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a ...

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 jawed vertebrates, the mandible (from the Latin ''mandibula'', 'for chewing'), lower jaw, or jawbone is a bone that makes up the lowerand typically more mobilecomponent of the mouth (the upper jaw being known as the maxilla). The jawbone i ...

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 Hallermann was a German lawyer, professor at Kiel University from 1941 until 1971, a member of the Nazi party since 1937 and a SA member since 1933. Education Hallermann began his medical studies in 1920 at the University of Munich. Th ...

(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 Syndromes of unknown causes Rare diseases Syndromes affecting the eye Congenital disorders of eye, ear, face and neck Congenital disorders of musculoskeletal system Syndromes affecting stature