Bangstad syndrome: Difference between revisions
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[[File:Autosomal recessive - en.svg|thumb|Autosomal recessive - en|right]]<br>'''Bangstad syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[skeletal abnormalities]], [[growth retardation]], and [[intellectual disability]]. The syndrome is named after the Norwegian pediatrician who first described it. | {{SI}} | ||
{{Infobox medical condition | |||
| name = Bangstad syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| image_size = 200px | |||
| alt = | |||
| caption = Bangstad syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Short stature]], [[intellectual disability]], [[hearing loss]], [[retinitis pigmentosa]], [[hypogonadism]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| medication = | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
[[File:Autosomal recessive - en.svg|left|thumb|Autosomal recessive - en|right]]<br>'''Bangstad syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[skeletal abnormalities]], [[growth retardation]], and [[intellectual disability]]. The syndrome is named after the Norwegian pediatrician who first described it. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with Bangstad syndrome typically present with a range of clinical features, including: | Individuals with Bangstad syndrome typically present with a range of clinical features, including: | ||
Latest revision as of 18:52, 4 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
| Bangstad syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Short stature, intellectual disability, hearing loss, retinitis pigmentosa, hypogonadism |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care, symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Bangstad syndrome is a rare genetic disorder characterized by a combination of skeletal abnormalities, growth retardation, and intellectual disability. The syndrome is named after the Norwegian pediatrician who first described it.
Clinical Features[edit]
Individuals with Bangstad syndrome typically present with a range of clinical features, including:
- Short stature
- Microcephaly (small head size)
- Intellectual disability
- Facial dysmorphism (distinctive facial features)
- Skeletal abnormalities such as scoliosis and joint hypermobility
Genetics[edit]
Bangstad syndrome is believed to follow an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in Bangstad syndrome have not yet been identified.
Diagnosis[edit]
The diagnosis of Bangstad syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be used to rule out other conditions with similar presentations. Radiographic imaging can help identify skeletal abnormalities.
Management[edit]
There is no cure for Bangstad syndrome, and treatment is primarily supportive. Management strategies may include:
- Physical therapy to improve mobility and strength
- Occupational therapy to assist with daily activities
- Special education programs to address intellectual disability
- Regular monitoring and treatment of scoliosis and other skeletal issues
Prognosis[edit]
The prognosis for individuals with Bangstad syndrome varies depending on the severity of symptoms. Early intervention and supportive care can improve the quality of life for affected individuals.
See Also[edit]
References[edit]
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