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Disease Profile

Campomelic dysplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CMPD; CMPD1; CMD1;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

Summary

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]

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.

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]

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.

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
Neon

Cause

Campomelic dysplasia is caused by genetic changes (DNA variants) or rarely, chromosome rearrangements near or in the SOX9 gene.[1][6]

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.[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

Organizations

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

    Learn more

    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.

        References

        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.

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