Bhaskar–Jagannathan syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
No edit summary |
CSV import |
||
| Line 1: | Line 1: | ||
{{Infobox medical condition | |||
| name = Bhaskar–Jagannathan syndrome | |||
| synonyms = [[BJS]] | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[developmental delay]], [[seizures]], [[hypotonia]], [[microcephaly]], [[dysmorphic features]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Other genetic syndromes]] | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare]] | |||
}} | |||
'''Bhaskar–Jagannathan syndrome''' is a rare [[genetic disorder]] characterized by [[intellectual disability]], [[microcephaly]], [[short stature]], and [[distinctive facial features]]. The syndrome was first described by Dr. Bhaskar and Dr. Jagannathan in 2016. | |||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The most common symptoms of | The most common symptoms of Bhaskar–Jagannathan syndrome include: | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Microcephaly]] (small head size) | * [[Microcephaly]] (small head size) | ||
* [[Short stature]] | * [[Short stature]] | ||
* Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin | * Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin | ||
Other symptoms may include [[seizures]], [[developmental delay]], and [[behavioral problems]]. | Other symptoms may include [[seizures]], [[developmental delay]], and [[behavioral problems]]. | ||
== Causes == | == Causes == | ||
Bhaskar–Jagannathan syndrome is caused by mutations in the [[gene]] known as ''[[ZNF335]]''. This gene provides instructions for making a protein that is involved in the development of the [[brain]] and [[nervous system]]. | |||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of | Diagnosis of Bhaskar–Jagannathan syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for | There is currently no cure for Bhaskar–Jagannathan syndrome. Treatment is supportive and based on the symptoms present in each individual. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
Latest revision as of 22:08, 3 April 2025
| Bhaskar–Jagannathan syndrome | |
|---|---|
| Synonyms | BJS |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, developmental delay, seizures, hypotonia, microcephaly, dysmorphic features |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other genetic syndromes |
| Prevention | N/A |
| Treatment | Supportive care, symptomatic treatment |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Bhaskar–Jagannathan syndrome is a rare genetic disorder characterized by intellectual disability, microcephaly, short stature, and distinctive facial features. The syndrome was first described by Dr. Bhaskar and Dr. Jagannathan in 2016.
Symptoms and Signs[edit]
The most common symptoms of Bhaskar–Jagannathan syndrome include:
- Intellectual disability
- Microcephaly (small head size)
- Short stature
- Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin
Other symptoms may include seizures, developmental delay, and behavioral problems.
Causes[edit]
Bhaskar–Jagannathan syndrome is caused by mutations in the gene known as ZNF335. This gene provides instructions for making a protein that is involved in the development of the brain and nervous system.
Diagnosis[edit]
Diagnosis of Bhaskar–Jagannathan syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for Bhaskar–Jagannathan syndrome. Treatment is supportive and based on the symptoms present in each individual.
