National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Campomelic dysplasia

Campomelic dysplasia is a rare genetic disorder that 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.[1][2][3][4]
Last updated: 5/14/2020
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.

Signs and symptoms may include:[1][2][3]
  • 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.[1][5]

Some people with features of this genetic disorder may not have bowed limbs and are said to have acampomelic campomelic dysplasia.[1]
Last updated: 5/14/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
11 pairs of ribs 0000878
Cleft palate
Cleft roof of mouth
0000175
Fibular hypoplasia
Short calf bone
0003038
Flat face
Flat facial shape
0012368
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hypoplastic inferior ilia 0008821
Laryngomalacia
Softening of voice box tissue
0001601
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Poorly ossified cervical vertebrae 0008477
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Respiratory insufficiency
Respiratory impairment
0002093
Scoliosis 0002650
Short neck
Decreased length of neck
0000470
Small abnormally formed scapulae
Small abnormally formed shoulder blade
0006584
Tibial bowing
Bowed shankbone
Bowed shinbone
[ more ] 		0002982
Tracheobronchomalacia 0002786
30%-79% of people have these symptoms
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] 		0000062
Femoral bowing
Bowed thighbone
0002980
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Male pseudohermaphroditism 0000037
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Skin dimple 0010781
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect
[ more ] 		0004408
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hydronephrosis 0000126
Hypoplasia of olfactory tract 0007036
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Ventriculomegaly 0002119
Percent of people who have these symptoms is not available through HPO
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] 		0001627
Absent sternal ossification 0006628
Anterior tibial bowing 0006390
Apnea 0002104
Autosomal dominant inheritance 0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ] 		0000457
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] 		0008873
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
High forehead 0000348
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplastic cervical vertebrae 0008434
Hypoplastic iliac wing 0002866
Hypoplastic scapulae
Small shoulder blade
0000882
Kyphoscoliosis 0002751
Muscular hypotonia
Low or weak muscle tone
0001252
Neonatal short-limb short stature
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ] 		0008921
Polyhydramnios
High levels of amniotic fluid
0001561
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Sex reversal 0012245
Short palpebral fissure
Short opening between the eyelids
0012745
Shortening of all phalanges of fingers
Shortening of all finger bones
0011910
Shortening of all phalanges of the toes
Short toe bones
0005035
Small face
Short and narrow face
Small facies
[ more ] 		0000274
Thin ribs
Slender ribs
0000883
Thoracic hypoplasia
Small chest
Small thorax
[ more ] 		0005257
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
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Last updated: 7/1/2020
Campomelic dysplasia is caused by genetic changes (DNA variants) or rarely, chromosome rearrangements near or in the SOX9 gene.[1][6]
Last updated: 5/14/2020
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.[1]

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

Last updated: 5/14/2020
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.[1][2][5]

Specialists who may be involved in the care of someone with campomelic dysplasia include: 
  • Medical geneticist
  • Orthopedist/Orthopedic surgeon
  • Craniofacial surgeon
  • Endocrinologist
  • Audiologist
Last updated: 5/14/2020
The exact number of people that are born with campomelic dysplasia is unknown. It has been estimated that 1 in 40,000 to 1 in 200,000 people have this condition.[1][2]
Last updated: 5/14/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Campomelic dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Campomelic dysplasia:
    International Skeletal Dysplasia Registry (ISDR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Campomelic dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Campomelic dysplasia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Unger S, Scherer G & Superti-Furga A. Campomelic dysplasia. GeneReviews. May 9, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1760/.
  2. Jain V, Sen B. Campomelic dysplasia. J Pediatr Orthop B. 2014; 23(5):485-488. https://pubmed.ncbi.nlm.nih.gov/24800790.
  3. Nelson ME, Griffin GR, Innis JW, Green GE. Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.. Ann Otol Rhinol Laryngol. Oct 2011; 120(10):682-5. https://pubmed.ncbi.nlm.nih.gov/22097155.
  4. Dahdaleh NS, Albert GW, Hasan DM. Campomelic dysplasia: a rare cause of congenital spinal deformity. J Clin Neurosci. May 2010; 17(5):664-6. https://pubmed.ncbi.nlm.nih.gov/20199862.
  5. Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. The phenotype of survivors of campomelic dysplasia.. J Med Genet. 2002; 39:597-602. https://pubmed.ncbi.nlm.nih.gov/12161603.
  6. Carvajal N, Martínez-García M, Chagoyen M, Morcillo N, et al. Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. Gene. Feb 15, 2016; 577(2):289-92. https://pubmed.ncbi.nlm.nih.gov/26631621.