Hallermann–Streiff syndrome: Difference between revisions
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[[File:Hallerman-Streiff_Syndrome_5.jpg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Hallermann–Streiff syndrome | |||
| image = [[File:Hallerman-Streiff_Syndrome_5.jpg]] | |||
| caption = A person with Hallermann–Streiff syndrome | |||
| synonyms = Hallermann-Streiff-François syndrome, Oculomandibulofacial syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Dwarfism]], [[craniofacial dysmorphism]], [[dental abnormalities]], [[hypotrichosis]], [[cataracts]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] (unknown specific gene) | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]] | |||
| differential = [[Progeria]], [[Crouzon syndrome]], [[Apert syndrome]] | |||
| prevention = None | |||
| treatment = [[Symptomatic treatment]], [[surgical intervention]] | |||
| medication = | |||
| prognosis = Variable, depends on severity of symptoms | |||
| frequency = Rare, estimated <1 in 1,000,000 | |||
| deaths = | |||
}} | |||
'''Hallermann–Streiff syndrome''' (HSS) is a rare congenital disorder characterized by distinctive craniofacial abnormalities, dental anomalies, and proportionate dwarfism. The syndrome is named after the German ophthalmologist [[Wilhelm Hallermann]] and the Swiss ophthalmologist [[Enrico Streiff]], who first described the condition in the 20th century. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with Hallermann–Streiff syndrome typically present with a combination of the following features: | Individuals with Hallermann–Streiff syndrome typically present with a combination of the following features: | ||
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* [[Skin and hair abnormalities]]: Thin skin and sparse hair, particularly on the scalp. | * [[Skin and hair abnormalities]]: Thin skin and sparse hair, particularly on the scalp. | ||
* [[Respiratory issues]]: Due to craniofacial abnormalities, individuals may experience breathing difficulties. | * [[Respiratory issues]]: Due to craniofacial abnormalities, individuals may experience breathing difficulties. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Hallermann–Streiff syndrome is primarily clinical, based on the characteristic physical features. Genetic testing may be used to rule out other conditions with overlapping symptoms. | The diagnosis of Hallermann–Streiff syndrome is primarily clinical, based on the characteristic physical features. Genetic testing may be used to rule out other conditions with overlapping symptoms. | ||
== Management == | == Management == | ||
There is no cure for Hallermann–Streiff syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team, including: | There is no cure for Hallermann–Streiff syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team, including: | ||
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* [[Orthopedics]]: For skeletal issues. | * [[Orthopedics]]: For skeletal issues. | ||
* [[Respiratory therapy]]: For breathing difficulties. | * [[Respiratory therapy]]: For breathing difficulties. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Hallermann–Streiff syndrome varies depending on the severity of the symptoms and the presence of complications. With appropriate medical care, many individuals can lead relatively normal lives. | The prognosis for individuals with Hallermann–Streiff syndrome varies depending on the severity of the symptoms and the presence of complications. With appropriate medical care, many individuals can lead relatively normal lives. | ||
== See also == | |||
== | |||
* [[Craniofacial dysmorphisms]] | * [[Craniofacial dysmorphisms]] | ||
* [[Microcephaly]] | * [[Microcephaly]] | ||
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* [[Nystagmus]] | * [[Nystagmus]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Genetic syndromes]] | [[Category:Genetic syndromes]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Congenital malformations and deformations of musculoskeletal system}} | {{Congenital malformations and deformations of musculoskeletal system}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 04:17, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hallermann–Streiff syndrome | |
|---|---|
| |
| Synonyms | Hallermann-Streiff-François syndrome, Oculomandibulofacial syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Dwarfism, craniofacial dysmorphism, dental abnormalities, hypotrichosis, cataracts |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation (unknown specific gene) |
| Risks | |
| Diagnosis | Clinical diagnosis |
| Differential diagnosis | Progeria, Crouzon syndrome, Apert syndrome |
| Prevention | None |
| Treatment | Symptomatic treatment, surgical intervention |
| Medication | |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare, estimated <1 in 1,000,000 |
| Deaths | |
Hallermann–Streiff syndrome (HSS) is a rare congenital disorder characterized by distinctive craniofacial abnormalities, dental anomalies, and proportionate dwarfism. The syndrome is named after the German ophthalmologist Wilhelm Hallermann and the Swiss ophthalmologist Enrico Streiff, who first described the condition in the 20th century.
Clinical Features[edit]
Individuals with Hallermann–Streiff syndrome typically present with a combination of the following features:
- Craniofacial dysmorphisms: These include a small head (microcephaly), a beaked nose, a small mouth, and a receding chin (micrognathia).
- Dental anomalies: These may include delayed eruption of teeth, missing teeth (hypodontia), and dental crowding.
- Proportionate dwarfism: Short stature with normal body proportions.
- Ocular abnormalities: These can include cataracts, microphthalmia (small eyes), and nystagmus.
- Skin and hair abnormalities: Thin skin and sparse hair, particularly on the scalp.
- Respiratory issues: Due to craniofacial abnormalities, individuals may experience breathing difficulties.
Diagnosis[edit]
The diagnosis of Hallermann–Streiff syndrome is primarily clinical, based on the characteristic physical features. Genetic testing may be used to rule out other conditions with overlapping symptoms.
Management[edit]
There is no cure for Hallermann–Streiff syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team, including:
- Ophthalmology: For the management of cataracts and other eye abnormalities.
- Dentistry: For dental anomalies.
- Orthopedics: For skeletal issues.
- Respiratory therapy: For breathing difficulties.
Prognosis[edit]
The prognosis for individuals with Hallermann–Streiff syndrome varies depending on the severity of the symptoms and the presence of complications. With appropriate medical care, many individuals can lead relatively normal lives.
See also[edit]
- Craniofacial dysmorphisms
- Microcephaly
- Micrognathia
- Hypodontia
- Proportionate dwarfism
- Cataracts
- Microphthalmia
- Nystagmus
| Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality | ||||||||||||||||||||
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