Ectrodactyly–ectodermal dysplasia–cleft syndrome: Difference between revisions
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[[File:Autosomal_dominant_-_en.svg|Autosomal dominant | {{SI}} | ||
{{Infobox medical condition | |||
| name = Ectrodactyly–ectodermal dysplasia–cleft syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = [[Autosomal dominant]] is the pattern of inheritance for this condition. | |||
| synonyms = EEC syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Ectrodactyly]], [[ectodermal dysplasia]], [[cleft lip and palate]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical examination]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]], [[surgery]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Ectrodactyly–ectodermal dysplasia–cleft syndrome''' (EEC syndrome) is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. It is an autosomal dominant condition with variable expressivity and incomplete penetrance. | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
Individuals with EEC syndrome typically present with the following features: | Individuals with EEC syndrome typically present with the following features: | ||
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* '''[[Ectodermal dysplasia]]''': This includes abnormalities in the development of the skin, hair, nails, teeth, and sweat glands. Common manifestations include sparse hair, missing teeth, and abnormal nail growth. | * '''[[Ectodermal dysplasia]]''': This includes abnormalities in the development of the skin, hair, nails, teeth, and sweat glands. Common manifestations include sparse hair, missing teeth, and abnormal nail growth. | ||
* '''[[Cleft lip and palate]]''': A congenital split in the upper lip and/or roof of the mouth. | * '''[[Cleft lip and palate]]''': A congenital split in the upper lip and/or roof of the mouth. | ||
Additional symptoms may include: | Additional symptoms may include: | ||
* [[Hearing loss]] | * [[Hearing loss]] | ||
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* [[Keratitis]] | * [[Keratitis]] | ||
* [[Lacrimal duct obstruction]] | * [[Lacrimal duct obstruction]] | ||
== Genetics == | == Genetics == | ||
EEC syndrome is primarily caused by mutations in the [[TP63]] gene, which plays a crucial role in the development of ectodermal tissues. The condition follows an [[autosomal dominant]] inheritance pattern, meaning a single copy of the mutated gene can cause the disorder. | EEC syndrome is primarily caused by mutations in the [[TP63]] gene, which plays a crucial role in the development of ectodermal tissues. The condition follows an [[autosomal dominant]] inheritance pattern, meaning a single copy of the mutated gene can cause the disorder. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of EEC syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic triad of symptoms often leads to a clinical diagnosis, which can be confirmed by identifying mutations in the TP63 gene. | Diagnosis of EEC syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic triad of symptoms often leads to a clinical diagnosis, which can be confirmed by identifying mutations in the TP63 gene. | ||
== Treatment == | == Treatment == | ||
There is no cure for EEC syndrome, and treatment is symptomatic and supportive. Management may include: | There is no cure for EEC syndrome, and treatment is symptomatic and supportive. Management may include: | ||
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* Hearing aids for hearing loss | * Hearing aids for hearing loss | ||
* Regular monitoring and management of urinary tract anomalies | * Regular monitoring and management of urinary tract anomalies | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with EEC syndrome varies depending on the severity of symptoms and the presence of associated anomalies. With appropriate medical care and supportive treatments, many individuals can lead relatively normal lives. | The prognosis for individuals with EEC syndrome varies depending on the severity of symptoms and the presence of associated anomalies. With appropriate medical care and supportive treatments, many individuals can lead relatively normal lives. | ||
== See also == | |||
== | |||
* [[Ectrodactyly]] | * [[Ectrodactyly]] | ||
* [[Ectodermal dysplasia]] | * [[Ectodermal dysplasia]] | ||
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* [[Autosomal dominant]] | * [[Autosomal dominant]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 15:23, 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
| Ectrodactyly–ectodermal dysplasia–cleft syndrome | |
|---|---|
| |
| Synonyms | EEC syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Ectrodactyly, ectodermal dysplasia, cleft lip and palate |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical examination |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care, surgery |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC syndrome) is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. It is an autosomal dominant condition with variable expressivity and incomplete penetrance.
Signs and Symptoms[edit]
Individuals with EEC syndrome typically present with the following features:
- Ectrodactyly: Also known as split hand/foot malformation, this condition involves the absence of one or more central digits of the hand or foot.
- Ectodermal dysplasia: This includes abnormalities in the development of the skin, hair, nails, teeth, and sweat glands. Common manifestations include sparse hair, missing teeth, and abnormal nail growth.
- Cleft lip and palate: A congenital split in the upper lip and/or roof of the mouth.
Additional symptoms may include:
Genetics[edit]
EEC syndrome is primarily caused by mutations in the TP63 gene, which plays a crucial role in the development of ectodermal tissues. The condition follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene can cause the disorder.
Diagnosis[edit]
Diagnosis of EEC syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic triad of symptoms often leads to a clinical diagnosis, which can be confirmed by identifying mutations in the TP63 gene.
Treatment[edit]
There is no cure for EEC syndrome, and treatment is symptomatic and supportive. Management may include:
- Surgical correction of cleft lip and palate
- Dental care for missing or malformed teeth
- Dermatological treatments for skin issues
- Hearing aids for hearing loss
- Regular monitoring and management of urinary tract anomalies
Prognosis[edit]
The prognosis for individuals with EEC syndrome varies depending on the severity of symptoms and the presence of associated anomalies. With appropriate medical care and supportive treatments, many individuals can lead relatively normal lives.
See also[edit]
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