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campomelic dysplasia (CMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Cervical spine instability, Midface retrusion, Cervical kyphosis, and Hypospadias; and very common findings: Tibial bowing, Fibular hypoplasia, Tracheomalacia, and 11 pairs of ribs and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	12	Femoral bowing, Kyphoscoliosis, Joint hypermobility
Brain and nerves	7	Seizure, Moderate global developmental delay, Mild global developmental delay
Head and neck	7	Relative macrocephaly, Submucous cleft hard palate, Cleft palate
Lungs and breathing	6	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Apnea
Arms and legs	6	Contracture of the distal interphalangeal joint of the fingers, Neonatal short-limb short stature, Shortening of all phalanges of the toes
Growth and development	4	Neonatal short-limb short stature, Failure to thrive, Disproportionate short-limb short stature
Ears	2	Hearing loss (hearing impairment), Conductive hearing impairment
Blood and immune system	2	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections
Muscles	2	Low muscle tone (hypotonia), Contracture of the distal interphalangeal joint of the fingers
Pregnancy and birth	2	Neonatal short-limb short stature, Neonatal respiratory distress
Digestive system	1	Feeding difficulties
Heart and blood vessels	1	Abnormal heart morphology
Skin	1	Short nail

Age of onset: at birth.

GeneReviews

Clinical Guidance

To date, approximately 100 individuals (fetuses included) with a pathogenic variant in SOX9 have been identified; the data are scattered across many case reports and a few small series [, , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Campomelic dysplasia (CD) is sometimes identified on prenatal ultrasound examination but may escape detection until after birth if the limbs are not bowed. Many newborns with CD die shortly after birth secondary to respiratory insufficiency. In comparison with other lethal skeletal dysplasias, the cause of death in CD is not related to thoracic cage hypoplasia but rather to airway instability (tracheobronchomalacia) or cervical spine instability.

Source: GeneReviews — "Campomelic Dysplasia"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for campomelic dysplasia (CD) have been published. The diagnosis of CD (derived from the Greek for "bent limb") can usually be clearly established based on clinical and radiographic findings. Although no single clinical feature is obligatory, the radiographic features are consistent and are the most reliable diagnostic clues.

Suggestive Findings

CD should be suspected in individuals with the following clinical and radiographic features.

Clinical features

Source: GeneReviews — "Campomelic Dysplasia"

GeneReviews

Differential Diagnosis

Differential Diagnosis in the Prenatal Period Table 2. Disorders with Prenatal Limb Bowing in the Differential Diagnosis of Campomelic Dysplasia

Gene(s)	Differential Disorder	MOI	Comment
Hypophosphatasia	AR1	COL1A1	—
COL1A2	Osteogenesis imperfecta (perinatally lethal OI or progressively deforming OI)	AD

Genetic testing for SOX9 is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for campomelic dysplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with campomelic dysplasia (CD), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended for those infants surviving the neonatal period. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Campomelic Dysplasia

System/Concern	Evaluation	Comment
or tracheobronchomalacia	Clinical eval	—
Cervical spine instability	Lateral radiograph of cervical spine	—
Cleft palate	Eval by craniofacial team incl feeding eval	—
Risk of gonadoblastoma in 46,XY phenotypic females	Karyotype analysis	In phenotypic females to identify those w/46,XY karyotype
Clubfeet	Referral to orthopedist	—
Hearing impairment	Hearing screening

Source: GeneReviews — "Campomelic Dysplasia"

GeneReviews

Clinical Guidance

There are no known circumstances to avoid. However, in long-term survivors with cervical spine malformations, it seems reasonable to limit activities that cause extreme flexion or extension (e.g., somersaults).

Source: GeneReviews — "Campomelic Dysplasia"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Campomelic Dysplasia"

Clinical Trials

View trials for campomelic dysplasia

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for campomelic dysplasia.

15 publications have been identified in PubMed for campomelic dysplasia. Research spans Basic Science / Preclinical (60%), Case Report / Case Series (33%), and Review / Meta-Analysis (7%).

Research Type	Count	% of Total
Laboratory research	9	60%
Patient case studies	5	33%
Research summaries	1	7%

Recent Publications

Wu S (2026). [PMID: 41596573](https://pubmed.ncbi.nlm.nih.gov/41596573/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Towers CV (2026). [PMID: 41884620](https://pubmed.ncbi.nlm.nih.gov/41884620/). *Front Genet*. [Case Report / Case Series]
Lawrence M (2026). [PMID: 41879230](https://pubmed.ncbi.nlm.nih.gov/41879230/). *Dev Dyn*. [Review / Meta-Analysis]
Islam Z (2026). [PMID: 42193997](https://pubmed.ncbi.nlm.nih.gov/42193997/). *Biomolecules*. [Basic Science / Preclinical]
Wang L (2025). [PMID: 39854231](https://pubmed.ncbi.nlm.nih.gov/39854231/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Harrison J (2025). [PMID: 41436212](https://pubmed.ncbi.nlm.nih.gov/41436212/). *BMJ case reports*. [Basic Science / Preclinical]
Szoszkiewicz A (2025). [PMID: 41272840](https://pubmed.ncbi.nlm.nih.gov/41272840/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]
Ha TY (2025). [PMID: 40025280](https://pubmed.ncbi.nlm.nih.gov/40025280/). *Cellular and molecular life sciences : CMLS*. [Basic Science / Preclinical]
Marzuki NS (2025). [PMID: 40492130](https://pubmed.ncbi.nlm.nih.gov/40492130/). *Journal of clinical research in pediatric endocrinology*. [Basic Science / Preclinical]
Ettaki I (2025). [PMID: 39797402](https://pubmed.ncbi.nlm.nih.gov/39797402/). *HGG advances*. [Case Report / Case Series]

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campomelic dysplasia

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Kyphoscoliosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

campomelic dysplasia

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Kyphoscoliosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team