Nablus mask-like facial syndrome: Difference between revisions
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[[File:Ideogram_human_chromosome_8.svg|Ideogram human chromosome 8| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Nablus mask-like facial syndrome | |||
| image = [[File:Ideogram_human_chromosome_8.svg|150px]] | |||
| alt = Ideogram of human chromosome 8 | |||
| caption = Ideogram of human chromosome 8 | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Mask-like facial appearance]], [[blepharophimosis]], [[telecanthus]], [[downslanting palpebral fissures]], [[flat nasal bridge]], [[ear anomalies]], [[long philtrum]], [[thin upper lip]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Chromosomal deletion]] on [[chromosome 8]] | |||
| risks = [[Genetic predisposition]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = Other [[craniofacial syndromes]] | |||
| treatment = [[Symptomatic treatment]], [[surgical intervention]] | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare disease]] | |||
}} | |||
'''Nablus mask-like facial syndrome''' is a rare genetic disorder characterized by distinctive facial features and various developmental abnormalities. It was first described in the city of [[Nablus]], located in the [[West Bank]], which is how the syndrome got its name. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with Nablus mask-like facial syndrome typically exhibit a set of unique facial characteristics, including: | Individuals with Nablus mask-like facial syndrome typically exhibit a set of unique facial characteristics, including: | ||
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* Thin upper lip | * Thin upper lip | ||
* Micrognathia (small jaw) | * Micrognathia (small jaw) | ||
Other common features may include: | Other common features may include: | ||
* Intellectual disability | * Intellectual disability | ||
| Line 16: | Line 32: | ||
* Congenital heart defects | * Congenital heart defects | ||
* Skeletal abnormalities | * Skeletal abnormalities | ||
== Genetics == | == Genetics == | ||
Nablus mask-like facial syndrome is caused by a microdeletion on chromosome 8q22.1. This deletion affects several genes, which contribute to the phenotypic manifestations of the syndrome. The exact mechanism by which these deletions lead to the clinical features is still under investigation. | Nablus mask-like facial syndrome is caused by a microdeletion on chromosome 8q22.1. This deletion affects several genes, which contribute to the phenotypic manifestations of the syndrome. The exact mechanism by which these deletions lead to the clinical features is still under investigation. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Nablus mask-like facial syndrome is primarily based on clinical evaluation and the identification of characteristic facial features. Genetic testing, such as [[chromosomal microarray analysis]], can confirm the presence of the 8q22.1 microdeletion. | Diagnosis of Nablus mask-like facial syndrome is primarily based on clinical evaluation and the identification of characteristic facial features. Genetic testing, such as [[chromosomal microarray analysis]], can confirm the presence of the 8q22.1 microdeletion. | ||
== Management == | == Management == | ||
There is no cure for Nablus mask-like facial syndrome. Management is symptomatic and supportive, focusing on addressing the individual symptoms and improving the quality of life for affected individuals. This may include: | There is no cure for Nablus mask-like facial syndrome. Management is symptomatic and supportive, focusing on addressing the individual symptoms and improving the quality of life for affected individuals. This may include: | ||
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* Physical therapy for hypotonia | * Physical therapy for hypotonia | ||
* Surgical correction of congenital heart defects, if present | * Surgical correction of congenital heart defects, if present | ||
== Epidemiology == | == Epidemiology == | ||
Nablus mask-like facial syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown. | Nablus mask-like facial syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Developmental disorders]] | [[Category:Developmental disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 04:50, 6 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
| Nablus mask-like facial syndrome | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Mask-like facial appearance, blepharophimosis, telecanthus, downslanting palpebral fissures, flat nasal bridge, ear anomalies, long philtrum, thin upper lip |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Chromosomal deletion on chromosome 8 |
| Risks | Genetic predisposition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other craniofacial syndromes |
| Prevention | N/A |
| Treatment | Symptomatic treatment, surgical intervention |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare disease |
| Deaths | N/A |
Nablus mask-like facial syndrome is a rare genetic disorder characterized by distinctive facial features and various developmental abnormalities. It was first described in the city of Nablus, located in the West Bank, which is how the syndrome got its name.
Clinical Features[edit]
Individuals with Nablus mask-like facial syndrome typically exhibit a set of unique facial characteristics, including:
- A mask-like facial appearance
- Narrow palpebral fissures
- Flat nasal bridge
- Long philtrum
- Thin upper lip
- Micrognathia (small jaw)
Other common features may include:
- Intellectual disability
- Developmental delay
- Hypotonia (reduced muscle tone)
- Congenital heart defects
- Skeletal abnormalities
Genetics[edit]
Nablus mask-like facial syndrome is caused by a microdeletion on chromosome 8q22.1. This deletion affects several genes, which contribute to the phenotypic manifestations of the syndrome. The exact mechanism by which these deletions lead to the clinical features is still under investigation.
Diagnosis[edit]
Diagnosis of Nablus mask-like facial syndrome is primarily based on clinical evaluation and the identification of characteristic facial features. Genetic testing, such as chromosomal microarray analysis, can confirm the presence of the 8q22.1 microdeletion.
Management[edit]
There is no cure for Nablus mask-like facial syndrome. Management is symptomatic and supportive, focusing on addressing the individual symptoms and improving the quality of life for affected individuals. This may include:
- Early intervention programs for developmental delays
- Special education services
- Physical therapy for hypotonia
- Surgical correction of congenital heart defects, if present
Epidemiology[edit]
Nablus mask-like facial syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown.
See Also[edit]
- Genetic disorder
- Chromosomal microarray analysis
- Congenital heart defect
- Developmental delay
- Intellectual disability
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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