Campomelic dysplasia: Difference between revisions

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== Campomelic Dysplasia ==
{{Infobox medical condition (new)
| name            = Campomelic dysplasia
| synonyms        =
| image          = Autosomal dominant - en.svg
| caption        = This condition is inherited in an autosomal dominant manner
| pronounce      =  
| field          = [[Medical genetics]]
| symptoms        =
| complications  =
| onset          =
| duration        =
| types          =
| causes          =
| risks          =
| diagnosis      =
| differential    =
| prevention      =
| treatment      =
| medication      =
| prognosis      =
| frequency      =  
| deaths          =  
}}
Campomelic dysplasia is a rare genetic disorder. It affects the development of the skeleton, reproductive system, and face. Symptoms of campomelic dysplasia may include bowing of the legs, dislocated hips, small lungs and chest, and external genitalia that do not look clearly male or clearly female (ambiguous genitalia). In addition, infants with campomelic dysplasia have distinctive facial features including a small chin with cleft palate, prominent eyes, flat face, and a large head. Many infants die at an early age due to breathing problems. Campomelic dysplasia usually results from a new genetic change (DNA variant) in or the near the SOX9 gene. Diagnosis is based on physical findings and x-ray (radiograph) findings and may be confirmed by genetic testing. Treatment is aimed at preventing and/or managing the known symptoms and complications associated with this condition.


[[File:Autosomal dominant - en.svg|thumb|right|Diagram of autosomal dominant inheritance.]]
==Symptoms==
The following list includes the most common signs and symptoms in people with campomelic dysplasia. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.


'''Campomelic dysplasia''' is a rare genetic disorder characterized by skeletal abnormalities, distinctive facial features, and, in some cases, [[sex reversal]]. It is caused by mutations in the [[SOX9]] gene, which plays a critical role in the development of the skeleton and reproductive system.
==List of signs and symptoms==
* Large head (macrocephaly)
* Short, bowed limbs
* Dislocated hips
* 11 pairs of ribs instead of 12
* Small chest and lungs
* Club feet
* Abnormally formed shoulder blades
* Distinctive facial features, including small chin, prominent eyes, and a flat face
* Cleft palate with a small lower jaw (Pierre-Robin sequence)
* External genitalia that do not look male or female (ambiguous genitalia) or normal female genitalia with a typical male chromosome pattern (46,XY)
* Weakened cartilage of the upper respiratory tract (laryngotracheomalacia)
* Many babies with campomelic dysplasia die early in infancy due to trouble breathing. People who survive may develop an abnormal curvature of the spine (scoliosis) and spine abnormalities such as anomalies of the neck bones, which compress the spinal cord, as they age. Adults with campomelic dysplasia may also have short stature and hearing loss.


=== Clinical Features ===
Some people with features of this genetic disorder may not have bowed limbs and are said to have acampomelic campomelic dysplasia.


Individuals with campomelic dysplasia typically present with:
===== 80%-99% of people have these symptoms =====
* 11 pairs of ribs
* Fibular hypoplasia
* Flat face
* Hip dislocation
* Hypoplastic inferior ilia
* Laryngomalacia
* Macrocephaly
* Micrognathia
* Narrow chest
* Low chest
* Recurrent fractures
* Respiratory insufficiency
* Scoliosis
* Short neck
* Decreased length of neck
* Small abnormally formed scapulae
* Tibial bowing
* Tracheobronchomalacia
* 30%-79% of people have these symptoms
* Ambiguous genitalia
* Femoral bowing
* Hypertelorism
* Low-set ears
* Male pseudohermaphroditism
* Proptosis
* Short stature
* Skin dimple
* Talipes equinovarus
* Club feet


* '''Skeletal abnormalities''': These include [[bowing of the long bones]], particularly the [[tibia]] and [[femur]], [[hip dislocation]], and [[clubfoot]].
===== 5%-29% of people have these symptoms =====
* '''Facial features''': Affected individuals often have a small [[chin]] (micrognathia), a flat face, and a prominent forehead.
* Abnormality of cardiovascular system morphology
* '''Respiratory issues''': Due to [[tracheobronchomalacia]], individuals may experience breathing difficulties.
* Abnormality of the sense of smell
* '''Sex reversal''': Some individuals with an [[XY karyotype]] may develop female genitalia.
* Depressed nasal bridge
* Hearing impairment
* Hydronephrosis
* Hypoplasia of olfactory tract
* Kyphosis
* Hunched back
* Ventriculomegaly


=== Genetics ===
=== Cause ===
Campomelic dysplasia is caused by genetic changes (DNA variants) or rarely, chromosome rearrangements near or in the SOX9 gene


Campomelic dysplasia is inherited in an [[autosomal dominant]] pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. The [[SOX9]] gene, located on chromosome 17, is crucial for [[chondrogenesis]] and [[gonadal development]]. Mutations in this gene disrupt normal development, leading to the features of campomelic dysplasia.
=== Inheritance ===
Campomelic dysplasia is inherited in an autosomal dominant pattern. Most cases result from new (de novo) DNA variants in or near the SOX9 gene and occur in people with no history of the genetic disorder in their family.


=== Diagnosis ===
All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition.


Diagnosis is typically based on clinical features and can be confirmed by genetic testing to identify mutations in the [[SOX9]] gene. Prenatal diagnosis is possible through [[ultrasound]] and genetic testing if there is a known family history.
Each child of an individual carrying an autosomal dominant gene variant has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition


=== Management ===
==== Treatment ====
There is no specific treatment for campomelic dysplasia. Treatment is aimed at preventing and/or managing the known symptoms and complications associated with this condition. For example, orthopedic care and surgery may be needed to manage an unstable spine, clubfeet, and hip abnormalities. Surgery may also be indicated for a cleft palate if present.


Management of campomelic dysplasia is supportive and symptomatic. It may include:
Specialists who may be involved in the care of someone with campomelic dysplasia include:  
* Medical geneticist
* Orthopedist/Orthopedic surgeon
* Craniofacial surgeon
* Endocrinologist
* Audiologist


* '''Orthopedic interventions''': To address skeletal abnormalities and improve mobility.
{{stb}}
* '''Respiratory support''': For individuals with breathing difficulties.
{{Medical resources
* '''Endocrinological evaluation''': For individuals with sex reversal or other hormonal issues.
|  DiseasesDB      = 33419 
|  ICD10          = 
|  ICD9            = 
|  ICDO            = 
|  OMIM            = 114290 
|  MedlinePlus    = 
|  eMedicineSubj  = 
|  eMedicineTopic  = 
|  eMedicine_mult  = 
|  MeshID          = D055036
|  Orphanet      = 140
}}


=== Prognosis ===
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=campo-dysp GeneReviews/NCBI/NIH/UW entry on Campomelic Dysplasia]


The prognosis for individuals with campomelic dysplasia varies. Many affected individuals have a shortened lifespan due to respiratory complications, but some may survive into adulthood with appropriate medical care.
{{Transcription factor deficiencies|state = collapsed}}


== Related Pages ==
{{DEFAULTSORT:Camptomelic Dysplasia}}
 
[[Category:Transcription factor deficiencies]]
* [[SOX9]]
{{No image}}
* [[Autosomal dominant]]
* [[Skeletal dysplasia]]
* [[Sex reversal]]
 
{{Genetic disorders}}
 
[[Category:Genetic disorders]]
[[Category:Skeletal disorders]]

Revision as of 19:26, 16 February 2025

Campomelic dysplasia
Synonyms
Pronounce
Field Medical genetics
Symptoms
Complications
Onset
Duration
Types
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
Deaths


Campomelic dysplasia is a rare genetic disorder. It affects the development of the skeleton, reproductive system, and face. Symptoms of campomelic dysplasia may include bowing of the legs, dislocated hips, small lungs and chest, and external genitalia that do not look clearly male or clearly female (ambiguous genitalia). In addition, infants with campomelic dysplasia have distinctive facial features including a small chin with cleft palate, prominent eyes, flat face, and a large head. Many infants die at an early age due to breathing problems. Campomelic dysplasia usually results from a new genetic change (DNA variant) in or the near the SOX9 gene. Diagnosis is based on physical findings and x-ray (radiograph) findings and may be confirmed by genetic testing. Treatment is aimed at preventing and/or managing the known symptoms and complications associated with this condition.

Symptoms

The following list includes the most common signs and symptoms in people with campomelic dysplasia. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

List of signs and symptoms

  • Large head (macrocephaly)
  • Short, bowed limbs
  • Dislocated hips
  • 11 pairs of ribs instead of 12
  • Small chest and lungs
  • Club feet
  • Abnormally formed shoulder blades
  • Distinctive facial features, including small chin, prominent eyes, and a flat face
  • Cleft palate with a small lower jaw (Pierre-Robin sequence)
  • External genitalia that do not look male or female (ambiguous genitalia) or normal female genitalia with a typical male chromosome pattern (46,XY)
  • Weakened cartilage of the upper respiratory tract (laryngotracheomalacia)
  • Many babies with campomelic dysplasia die early in infancy due to trouble breathing. People who survive may develop an abnormal curvature of the spine (scoliosis) and spine abnormalities such as anomalies of the neck bones, which compress the spinal cord, as they age. Adults with campomelic dysplasia may also have short stature and hearing loss.

Some people with features of this genetic disorder may not have bowed limbs and are said to have acampomelic campomelic dysplasia.

80%-99% of people have these symptoms
  • 11 pairs of ribs
  • Fibular hypoplasia
  • Flat face
  • Hip dislocation
  • Hypoplastic inferior ilia
  • Laryngomalacia
  • Macrocephaly
  • Micrognathia
  • Narrow chest
  • Low chest
  • Recurrent fractures
  • Respiratory insufficiency
  • Scoliosis
  • Short neck
  • Decreased length of neck
  • Small abnormally formed scapulae
  • Tibial bowing
  • Tracheobronchomalacia
  • 30%-79% of people have these symptoms
  • Ambiguous genitalia
  • Femoral bowing
  • Hypertelorism
  • Low-set ears
  • Male pseudohermaphroditism
  • Proptosis
  • Short stature
  • Skin dimple
  • Talipes equinovarus
  • Club feet
5%-29% of people have these symptoms
  • Abnormality of cardiovascular system morphology
  • Abnormality of the sense of smell
  • Depressed nasal bridge
  • Hearing impairment
  • Hydronephrosis
  • Hypoplasia of olfactory tract
  • Kyphosis
  • Hunched back
  • Ventriculomegaly

Cause

Campomelic dysplasia is caused by genetic changes (DNA variants) or rarely, chromosome rearrangements near or in the SOX9 gene

Inheritance

Campomelic dysplasia is inherited in an autosomal dominant pattern. Most cases result from new (de novo) DNA variants in or near the SOX9 gene and occur in people with no history of the genetic disorder in their family.

All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition.

Each child of an individual carrying an autosomal dominant gene variant has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition

Treatment

There is no specific treatment for campomelic dysplasia. Treatment is aimed at preventing and/or managing the known symptoms and complications associated with this condition. For example, orthopedic care and surgery may be needed to manage an unstable spine, clubfeet, and hip abnormalities. Surgery may also be indicated for a cleft palate if present.

Specialists who may be involved in the care of someone with campomelic dysplasia include:

  • Medical geneticist
  • Orthopedist/Orthopedic surgeon
  • Craniofacial surgeon
  • Endocrinologist
  • Audiologist
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Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
(2) Zinc finger
DNA-binding domains
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
(0) Other transcription factors
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