Campomelic Dysplasia

Campomelic Dysplasia (CD) is a life-threatening condition characterized by bowed or bent limbs in infants. Know all about the causes, symptoms, diagnosis and treatment of this disease.

Campomelic Dysplasia Definition

“Campomelic” is a Greek term for bent limbs. A rare genetic disorder, CD targets males and females of all groups, causing multiple skeletal and extraskeletal abnormalities and reproductive anomalies along with host of other complications in the body.

It belongs to the autosomal dominant skeletal dysplasia category and is distinguished by facies. According to medical researchers, CD is related to the SOX9 gene.

Campomelic Dysplasia Synonyms

This disorder is also known by other names like:

Picture of Campomelic Dysplasia

Picture 1 – Campomelic Dysplasia

  • Campomelic Syndrome
  • Campomelic Dwarfism
  • Camptomelic Dwarfism
  • Camptomelic Dysplasia

Campomelic Dysplasia Incidence

The occurrence of Campomelic Dwarfism is uncertain. This syndrome arises in 1 out of every 40000 to 200000 live births in the US.

Acampomelic Campomelic Dysplasia

It is considered to be a variant of Camptomelic Dysplasia. A rare genetic form of dysplasia, it affects the connective tissues and bones. Absence of acampomelia (long bone curvature) is one of the major characteristics of this syndrome. This syndrome generally affects children and can be identified by a number of symptoms, including:

  • Tracheomalacia
  • Bronchomalacia
  • Hydroureters
  • Pulmonary hypoplasia
  • Renal cysts
  • Hydronephrosis

Campomelic Dysplasia Causes

This disorder is the result of a certain type of mutation in the SOX9 gene, which is restricted to chromosome 17. Only one copy of the defected gene is enough to give rise to this form of Dysplasia among the infants. The gene plays a crucial role in the formation of bone and the growth of testis.  Such defective genes are passed on from either parent to a child, giving rise to Camptomelic Dwarfism.

Campomelic Dysplasia Signs and Symptoms

This syndrome can affect various parts of the body. A person with this medical condition generally suffers from:

  • Bowed or curved legs
  • Respiratory problems, due to lack of growth of the cartilage rings
  • Hypoxic brain injury, which is caused by breathing problems, and hampers the average intelligence level of patients

Most male individuals affected with CD are found to have normal female genitalia.

Some of the other signs and symptoms, which indicate the presence of this disorder, may include one or more of the following:

  • Narrow and long skull
  • Micrognathism
  • Short bell-shaped chest
  • Eleven pair ribs
  • Flat face with suppressed nasal bridge
  • Bulging abdomen
  • Club feet
  • Short neck, with too much skin on the outer part
  • Sex reversal
  • Congenial heart defects
  • Hearing loss

Campomelic Dysplasia Diagnosis

Diagnosis of this congenial syndrome depends on few clinical characteristics. Such abnormalities of the bone can be detected via:

X-ray

This procedure helps to determine the symptoms of Camptomelic Dwarfism among the newborns. Deformity of the limbs or other parts of the body can also be detected by this diagnostic procedure.

Physical Examination

Diagnosis of this ailment may include proper examination of the newborn and finding out the occurrence of 11 pairs of ribs, short stature, bowed legs, reduced chest size etc.

Genetic Testing

With the help of the blood sample from the affected person genetic testing is possible, to determine the diagnosis of Campomelic Syndrome.  It mainly includes modifications in the SOX9 gene.

Parental Testing

It can be done by an ultra sound imaging of the clubfeet, ambiguous genitalia, bone bowing etc. Such a form of testing can be verified at birth. Molecular testing from a sample of aminocentesis also confirms the diagnosis.

Preimplantation Genetic Diagnosis

Families suffering from familial chromosome rearrangement or disease-causing mutation can opt for PG diagnosis.

Campomelic Dysplasia Treatment

Camptomelic Dysplasia is a life-threatening disorder for the newborns. It is characterized by the presence small lungs and chest. The size of the chest cannot be enlarged by any treatment. Such patients, who survive the infancy period, face severe breathing and feeding problems in adulthood. Hence, an occupational therapist should be consulted to cure the feeding issues. Regular oxygen transplant should be done to manage breathing problems. In order to manage the skeletal and bony disorders such as bowed legs and clubfoot, an orthopedist surgeon should be consulted. The medical treatments suggested by physicians to cure the newborns suffering from this disease may include:

Image of Campomelic Dysplasia

Picture 2 – Campomelic Dysplasia Image

Craniofacial surgery

Surgery, conducted by a team of craniofacial experts, is highly recommended for infants suffering from this form of Dysplasia.

Gonadectomy

This therapy is ideal for patients suffering from female genitalia and 46 XY karyotype. People who are more prone to gonadoblastoma are recommended this treatment.

Surgery

It is highly recommended for patients having club feet and cervico-thoracic kyphoscoliosis.  Cervical fusion surgery, is prescribed to few patients who have unstable cervical vertebra.

Campomelic Dysplasia Prognosis

This disease involves high risk of death among affected newborns. Most infants, suffering from intense breathing problems after birth due to CD, are often found to die. Underdeveloped lungs and small chest size are the main cause for the breathing problems.

 

Campomelic Dysplasia is a fatal disorder affecting the body growth and structure of the newborns. Proper surgical treatment is necessary to cure the deformities arising due to this syndrome. If you suspect any of your family members to be exhibiting the signs of this disorder, consult a health care provider immediately.

 

References:

http://www.ncbi.nlm.nih.gov/books/NBK1760/

http://en.wikipedia.org/wiki/Campomelic_dysplasia

http://www.nemours.org/service/medical/orthopedics/dysplasia/campomelic/watch.html

http://www.healthline.com/galecontent/campomelic-dysplasia-1#treatmentandmanagement

 

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