Crouzon syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Crouzon syndrome | |||
| image = [[File:Baby_with_Crouzon_Syndrome.jpg|250px]] | |||
| caption = Infant with Crouzon syndrome | |||
| synonyms = Craniofacial dysostosis | |||
| pronounce = | |||
| specialty = [[Medical genetics]], [[Pediatrics]] | |||
| symptoms = [[Craniosynostosis]], [[proptosis]], [[midface hypoplasia]], [[hearing loss]] | |||
| complications = [[Hydrocephalus]], [[sleep apnea]], [[vision problems]] | |||
| onset = At birth | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[FGFR2]] gene | |||
| risks = [[Autosomal dominant]] inheritance | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Apert syndrome]], [[Pfeiffer syndrome]], [[Saethre-Chotzen syndrome]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Surgery]], [[orthodontics]], [[hearing aids]] | |||
| medication = | |||
| prognosis = Variable, depends on severity | |||
| frequency = 1 in 60,000 births | |||
| deaths = Rarely directly causes death | |||
}} | |||
{{Short description|A genetic disorder characterized by the premature fusion of certain skull bones}} | {{Short description|A genetic disorder characterized by the premature fusion of certain skull bones}} | ||
'''Crouzon syndrome''' is a rare genetic disorder characterized by the premature fusion of certain [[skull]] bones, a process known as [[craniosynostosis]]. This early fusion prevents the skull from growing normally and affects the shape of the head and face. Crouzon syndrome is named after the French neurologist Octave Crouzon, who first described the condition in 1912. | '''Crouzon syndrome''' is a rare genetic disorder characterized by the premature fusion of certain [[skull]] bones, a process known as [[craniosynostosis]]. This early fusion prevents the skull from growing normally and affects the shape of the head and face. Crouzon syndrome is named after the French neurologist Octave Crouzon, who first described the condition in 1912. | ||
==Genetics== | ==Genetics== | ||
Crouzon syndrome is caused by mutations in the [[FGFR2]] gene, which provides instructions for making a protein involved in the development and maintenance of bone and tissue. The condition is inherited in an [[autosomal dominant]] pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation occurs as a new (de novo) mutation, with no family history of the disorder. | Crouzon syndrome is caused by mutations in the [[FGFR2]] gene, which provides instructions for making a protein involved in the development and maintenance of bone and tissue. The condition is inherited in an [[autosomal dominant]] pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation occurs as a new (de novo) mutation, with no family history of the disorder. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with Crouzon syndrome typically present with distinctive facial features due to the premature fusion of skull bones. These features may include: | Individuals with Crouzon syndrome typically present with distinctive facial features due to the premature fusion of skull bones. These features may include: | ||
* [[Brachycephaly]] (short and broad head) | * [[Brachycephaly]] (short and broad head) | ||
* [[Proptosis]] (bulging eyes) | * [[Proptosis]] (bulging eyes) | ||
| Line 16: | Line 35: | ||
* [[Maxillary hypoplasia]] (underdeveloped upper jaw) | * [[Maxillary hypoplasia]] (underdeveloped upper jaw) | ||
* [[Beaked nose]] | * [[Beaked nose]] | ||
Other possible features include [[hearing loss]], [[dental abnormalities]], and [[cleft palate]]. | Other possible features include [[hearing loss]], [[dental abnormalities]], and [[cleft palate]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Crouzon syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as [[CT scan]]s or [[MRI]]s can be used to assess the extent of craniosynostosis and other skeletal abnormalities. | Diagnosis of Crouzon syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as [[CT scan]]s or [[MRI]]s can be used to assess the extent of craniosynostosis and other skeletal abnormalities. | ||
==Management== | ==Management== | ||
Management of Crouzon syndrome typically involves a multidisciplinary approach, including: | Management of Crouzon syndrome typically involves a multidisciplinary approach, including: | ||
* [[Craniofacial surgery]] to correct skull and facial deformities | * [[Craniofacial surgery]] to correct skull and facial deformities | ||
* [[Orthodontic treatment]] for dental issues | * [[Orthodontic treatment]] for dental issues | ||
* [[Ophthalmologic care]] for eye problems | * [[Ophthalmologic care]] for eye problems | ||
* [[Audiological evaluation]] and management for hearing loss | * [[Audiological evaluation]] and management for hearing loss | ||
Early intervention and regular follow-up are crucial to address the various complications associated with the syndrome. | Early intervention and regular follow-up are crucial to address the various complications associated with the syndrome. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Crouzon syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical and surgical management, many individuals can lead healthy lives. | The prognosis for individuals with Crouzon syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical and surgical management, many individuals can lead healthy lives. | ||
==See also== | |||
== | |||
* [[Craniosynostosis]] | * [[Craniosynostosis]] | ||
* [[Apert syndrome]] | * [[Apert syndrome]] | ||
* [[Pfeiffer syndrome]] | * [[Pfeiffer syndrome]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Craniofacial conditions]] | [[Category:Craniofacial conditions]] | ||
[[Category:Syndromes affecting the skull]] | [[Category:Syndromes affecting the skull]] | ||
Latest revision as of 13:36, 5 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
| Crouzon syndrome | |
|---|---|
| |
| Synonyms | Craniofacial dysostosis |
| Pronounce | |
| Specialty | Medical genetics, Pediatrics |
| Symptoms | Craniosynostosis, proptosis, midface hypoplasia, hearing loss |
| Complications | Hydrocephalus, sleep apnea, vision problems |
| Onset | At birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the FGFR2 gene |
| Risks | Autosomal dominant inheritance |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Apert syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome |
| Prevention | Genetic counseling |
| Treatment | Surgery, orthodontics, hearing aids |
| Medication | |
| Prognosis | Variable, depends on severity |
| Frequency | 1 in 60,000 births |
| Deaths | Rarely directly causes death |
A genetic disorder characterized by the premature fusion of certain skull bones
Crouzon syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones, a process known as craniosynostosis. This early fusion prevents the skull from growing normally and affects the shape of the head and face. Crouzon syndrome is named after the French neurologist Octave Crouzon, who first described the condition in 1912.
Genetics[edit]
Crouzon syndrome is caused by mutations in the FGFR2 gene, which provides instructions for making a protein involved in the development and maintenance of bone and tissue. The condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation occurs as a new (de novo) mutation, with no family history of the disorder.
Clinical Features[edit]
Individuals with Crouzon syndrome typically present with distinctive facial features due to the premature fusion of skull bones. These features may include:
- Brachycephaly (short and broad head)
- Proptosis (bulging eyes)
- Hypertelorism (wide-set eyes)
- Strabismus (misalignment of the eyes)
- Maxillary hypoplasia (underdeveloped upper jaw)
- Beaked nose
Other possible features include hearing loss, dental abnormalities, and cleft palate.
Diagnosis[edit]
Diagnosis of Crouzon syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as CT scans or MRIs can be used to assess the extent of craniosynostosis and other skeletal abnormalities.
Management[edit]
Management of Crouzon syndrome typically involves a multidisciplinary approach, including:
- Craniofacial surgery to correct skull and facial deformities
- Orthodontic treatment for dental issues
- Ophthalmologic care for eye problems
- Audiological evaluation and management for hearing loss
Early intervention and regular follow-up are crucial to address the various complications associated with the syndrome.
Prognosis[edit]
The prognosis for individuals with Crouzon syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical and surgical management, many individuals can lead healthy lives.
