Campomelic dysplasia

Rare Oncology News

10027

Rare Oncology News

Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.1

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.^[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

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

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.

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.

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

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.

Not applicable

Other names (AKA)

CMPD; CMPD1; CMD1;

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 Patient Registry Los Angeles, CA Telephone: (424) 465-4192 E-mail: salon@mednet.ucla.edu Website: https://www.uclahealth.org/ortho/isdr 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 Unger S, Scherer G & Superti-Furga A. Campomelic dysplasia. GeneReviews. May 9, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1760/. Jain V, Sen B. Campomelic dysplasia. J Pediatr Orthop B. 2014; 23(5):485-488. https://pubmed.ncbi.nlm.nih.gov/24800790. 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. 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. 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. 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. Rare Oncology News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Oncology News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Oncology News. All Rights Reserved. Privacy Policy \| Terms of Service The Rare Medical Network Rare Cardiology News Rare Dermatology News Rare Endocrinology News Rare Gastroenterology News Rare Hematology News Rare Infectious Disease News Rare Immunology News Rare Nephrology/Urology News Rare Neurology News Rare Oncology News Rare Ophthalmology News Rare Pediatrics News Rare Primary Care News Rare Psychiatry News Rare Pulmonology News Rare Rheumatology News

Rare Oncology News

Rare Oncology News

Neonatal

Q87.1

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

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.

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.

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

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Cause

Treatment

Organizations

Organizations Supporting this Disease

Learn more

Where to Start

In-Depth Information

References

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.

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