Xia–Gibbs syndrome: Difference between revisions
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{{Infobox medical condition | {{Short description|Rare genetic disorder with developmental and neurological symptoms}} | ||
| name = | {{Infobox medical condition | ||
| synonyms = | | name = Xia-Gibbs syndrome | ||
| synonyms = '''AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome''' | |||
| image = | | image = | ||
| width = | | width = | ||
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| caption = | | caption = | ||
| pronounce = | | pronounce = | ||
| field = | | field = [[Medical genetics]], [[Pediatrics]], [[Neurology]] | ||
| symptoms = | | symptoms = [[Developmental delay]], [[hypotonia]], [[sleep apnea]], [[seizures]], [[micrognathia]], [[visual impairment]] | ||
| complications = | | complications = Learning disability, motor delay, speech delay, seizure disorders | ||
| onset = | | onset = [[Congenital]] (present at birth) | ||
| duration = | | duration = Lifelong | ||
| types = | | types = | ||
| causes = | | causes = Mutations in the ''[[AHDC1]]'' gene | ||
| risks = | | risks = Sporadic (de novo mutation) | ||
| diagnosis = | | diagnosis = [[Whole exome sequencing]] | ||
| differential = | | differential = [[Angelman syndrome]], [[Pitt–Hopkins syndrome]], [[Rett syndrome]] | ||
| prevention = | | prevention = None | ||
| treatment = | | treatment = Supportive therapies | ||
| medication = | | medication = Symptomatic only | ||
| prognosis = | | prognosis = Varies; most cases have moderate developmental disabilities | ||
| frequency = | | frequency = Very rare (< 100 reported cases) | ||
| deaths = | | deaths = Rare; not typically life-limiting | ||
}} | }} | ||
'''Xia-Gibbs | '''Xia-Gibbs syndrome''' (XGS) is a very rare [[genetic disorder]] caused by mutations in the ''[[AHDC1]]'' gene, located on the short arm of [[chromosome 1]] at position 1p36. The condition is associated with global [[developmental delay]], [[neurological abnormalities]], and distinct physical features. | ||
32 | Xia-Gibbs syndrome was first described in 2014 by Dr. [[Fengfei Xia]] and Dr. [[Richard Gibbs]] at [[Baylor College of Medicine]], following the identification of mutations in the ''AHDC1'' gene in individuals with developmental delay. As of early 2017, approximately 32 individuals worldwide had been diagnosed, though numbers have since increased with wider availability of genetic testing. | ||
==Signs and symptoms== | ==Signs and symptoms== | ||
Common features of Xia-Gibbs syndrome include: | |||
* [[Global developmental delay]] and [[intellectual disability]] | |||
* [[Hypotonia]] (reduced muscle tone) | |||
* [[Obstructive sleep apnea]] | |||
* [[Seizures]] | |||
* [[Delayed myelination]] of the brain | |||
* [[Retro-cerebellar cysts]] | |||
* Thinned [[corpus callosum]] | |||
* [[Micrognathia]] (small lower jaw) | |||
* [[Cutis aplasia]] (localized absence of skin at birth) | |||
* [[Cortical visual impairment]] | |||
* Mild [[facial dysmorphism]], including flattened nasal bridge, widely spaced eyes, and high forehead | |||
Xia-Gibbs | Motor and speech development are often delayed, and affected individuals may require assistance with daily activities throughout life. | ||
==Cause== | |||
Xia-Gibbs syndrome is caused by de novo (sporadic) mutations in the ''[[AHDC1]]'' (AT-Hook DNA-binding motif containing 1) gene. This gene is believed to play a role in [[gene regulation]] and [[neurodevelopment]], though its exact function remains under investigation. The mutation leads to a truncated or dysfunctional AHDC1 protein. | |||
Most cases are not inherited from the parents but arise spontaneously in the affected individual. However, the condition can be inherited in an [[autosomal dominant]] pattern if a parent carries the mutation. | |||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis | Diagnosis of Xia-Gibbs syndrome is established by: | ||
* Clinical evaluation based on physical and developmental findings | |||
* [[Whole exome sequencing]], which detects mutations in the ''AHDC1'' gene | |||
Because of the rarity and wide spectrum of symptoms, many individuals may remain undiagnosed or misdiagnosed. Differential diagnoses may include [[Angelman syndrome]], [[Pitt–Hopkins syndrome]], [[Rett syndrome]], and other developmental syndromes. | |||
==Treatment== | |||
There is no cure for Xia-Gibbs syndrome. Treatment focuses on symptom management and improving quality of life. Recommended interventions include: | |||
* [[Physical therapy]] for motor delay and hypotonia | |||
* [[Occupational therapy]] to improve daily skills | |||
* [[Speech therapy]] for communication challenges | |||
* Management of [[sleep apnea]] with [[continuous positive airway pressure]] (CPAP) or surgical intervention | |||
* [[Antiepileptic drugs]] to control seizures | |||
* Vision and hearing support | |||
==Prognosis== | |||
Prognosis varies depending on the severity of the symptoms. Most individuals have moderate to severe developmental delays, but lifespan is generally unaffected. Early intervention and multidisciplinary support can significantly improve outcomes. | |||
==Epidemiology== | |||
Xia-Gibbs syndrome is extremely rare. As of 2017, around 30 cases had been reported. Improved access to [[next-generation sequencing]] technologies has led to more diagnoses in recent years. The exact prevalence remains unknown but is likely underdiagnosed. | |||
==History== | ==History== | ||
The syndrome was named after its discoverers, Dr. Fengfei Xia and Dr. Richard Gibbs, who identified the link between ''AHDC1'' mutations and a consistent clinical phenotype using [[whole exome sequencing]] at Baylor College of Medicine in 2014. | |||
==See also== | |||
* [[Developmental delay]] | |||
* [[Hypotonia]] | |||
* [[Rare disease]] | |||
* [[Whole genome sequencing]] | |||
* [[AHDC1]] | |||
==External links== | |||
[[Category:Syndromes]] | * [https://www.ncbi.nlm.nih.gov/omim/615829 OMIM entry for Xia-Gibbs syndrome (615829)] | ||
* [https://www.xgsfoundation.org/ Xia-Gibbs Society - Foundation for support and awareness] | |||
{{Rare diseases}} | |||
{{DEFAULTSORT:Xia-Gibbs Syndrome}} | |||
{{nt}} | |||
[[Category:Genetic syndromes]] | |||
[[Category:Autosomal dominant disorders]] | |||
[[Category:Syndromes with intellectual disability]] | |||
[[Category:Rare diseases]] | |||
[[Category:Congenital disorders]] | |||
Latest revision as of 03:46, 3 April 2025
Rare genetic disorder with developmental and neurological symptoms
| Xia-Gibbs syndrome | |
|---|---|
| Synonyms | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
| Pronounce | |
| Specialty | N/A |
| Symptoms | Developmental delay, hypotonia, sleep apnea, seizures, micrognathia, visual impairment |
| Complications | Learning disability, motor delay, speech delay, seizure disorders |
| Onset | Congenital (present at birth) |
| Duration | Lifelong |
| Types | |
| Causes | Mutations in the AHDC1 gene |
| Risks | Sporadic (de novo mutation) |
| Diagnosis | Whole exome sequencing |
| Differential diagnosis | Angelman syndrome, Pitt–Hopkins syndrome, Rett syndrome |
| Prevention | None |
| Treatment | Supportive therapies |
| Medication | Symptomatic only |
| Prognosis | Varies; most cases have moderate developmental disabilities |
| Frequency | Very rare (< 100 reported cases) |
| Deaths | Rare; not typically life-limiting |
Xia-Gibbs syndrome (XGS) is a very rare genetic disorder caused by mutations in the AHDC1 gene, located on the short arm of chromosome 1 at position 1p36. The condition is associated with global developmental delay, neurological abnormalities, and distinct physical features.
Xia-Gibbs syndrome was first described in 2014 by Dr. Fengfei Xia and Dr. Richard Gibbs at Baylor College of Medicine, following the identification of mutations in the AHDC1 gene in individuals with developmental delay. As of early 2017, approximately 32 individuals worldwide had been diagnosed, though numbers have since increased with wider availability of genetic testing.
Signs and symptoms[edit]
Common features of Xia-Gibbs syndrome include:
- Global developmental delay and intellectual disability
- Hypotonia (reduced muscle tone)
- Obstructive sleep apnea
- Seizures
- Delayed myelination of the brain
- Retro-cerebellar cysts
- Thinned corpus callosum
- Micrognathia (small lower jaw)
- Cutis aplasia (localized absence of skin at birth)
- Cortical visual impairment
- Mild facial dysmorphism, including flattened nasal bridge, widely spaced eyes, and high forehead
Motor and speech development are often delayed, and affected individuals may require assistance with daily activities throughout life.
Cause[edit]
Xia-Gibbs syndrome is caused by de novo (sporadic) mutations in the AHDC1 (AT-Hook DNA-binding motif containing 1) gene. This gene is believed to play a role in gene regulation and neurodevelopment, though its exact function remains under investigation. The mutation leads to a truncated or dysfunctional AHDC1 protein.
Most cases are not inherited from the parents but arise spontaneously in the affected individual. However, the condition can be inherited in an autosomal dominant pattern if a parent carries the mutation.
Diagnosis[edit]
Diagnosis of Xia-Gibbs syndrome is established by:
- Clinical evaluation based on physical and developmental findings
- Whole exome sequencing, which detects mutations in the AHDC1 gene
Because of the rarity and wide spectrum of symptoms, many individuals may remain undiagnosed or misdiagnosed. Differential diagnoses may include Angelman syndrome, Pitt–Hopkins syndrome, Rett syndrome, and other developmental syndromes.
Treatment[edit]
There is no cure for Xia-Gibbs syndrome. Treatment focuses on symptom management and improving quality of life. Recommended interventions include:
- Physical therapy for motor delay and hypotonia
- Occupational therapy to improve daily skills
- Speech therapy for communication challenges
- Management of sleep apnea with continuous positive airway pressure (CPAP) or surgical intervention
- Antiepileptic drugs to control seizures
- Vision and hearing support
Prognosis[edit]
Prognosis varies depending on the severity of the symptoms. Most individuals have moderate to severe developmental delays, but lifespan is generally unaffected. Early intervention and multidisciplinary support can significantly improve outcomes.
Epidemiology[edit]
Xia-Gibbs syndrome is extremely rare. As of 2017, around 30 cases had been reported. Improved access to next-generation sequencing technologies has led to more diagnoses in recent years. The exact prevalence remains unknown but is likely underdiagnosed.
History[edit]
The syndrome was named after its discoverers, Dr. Fengfei Xia and Dr. Richard Gibbs, who identified the link between AHDC1 mutations and a consistent clinical phenotype using whole exome sequencing at Baylor College of Medicine in 2014.
See also[edit]
External links[edit]
NIH genetic and rare disease info[edit]
Xia–Gibbs syndrome is a rare disease.
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Rare diseases - Xia–Gibbs syndrome
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