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cranioectodermal dysplasia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Digestive system	5	Biliary cirrhosis, Cholestasis, Enlarged liver (hepatomegaly)
Head and neck	5	Cleft palate, High palate, Macrocephaly
Eyes	3	Strabismus, Nystagmus, Unilateral ptosis
Brain and nerves	3	Intellectual disability, Global developmental delay, Depressed nasal bridge
Heart and blood vessels	3	Hypertension, Thickened left heart wall (left ventricular hypertrophy), Atrial septal defect
Kidneys and urinary system	2	Reduced kidney function (renal insufficiency), Renal cyst
Lab test results	2	Hyperbilirubinemia, Elevated circulating hepatic transaminase concentration
Growth and development	1	Short stature
Bones and joints	1	Joint hypermobility
Pregnancy and birth	1	Hydrops fetalis
Lungs and breathing	1	Recurrent pneumonia
Blood and immune system	1	Enlarged spleen (splenomegaly)
Arms and legs	1	Postaxial hand polydactyly

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

Suggestive Findings

Cranioectodermal dysplasia (CED) should be suspected in individuals with the following clinical and radiographic findings.

Frequent features (in 75%)

Characteristic facial features (e.g., frontal bossing, low-set/simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip)
Brachydactyly
Dolichocephaly and sagittal craniosynostosis
Shortening (and bowing) of proximal bones (mostly humeri)
Short stature

Common features (50%-75%)

Source: GeneReviews — "Cranioectodermal Dysplasia"

GeneReviews

Differential Diagnosis

Cranioectodermal dysplasia (CED) is part of a spectrum of disorders caused by disruption of the cilium, an organelle of the cell that appears and functions as an antenna . These disorders, collectively referred to as ciliopathies, display marked phenotypic overlap. Typical clinical features of ciliopathies are: renal cystic disease; retinal dystrophy; shortening of ribs, phalanges, and long bones; polydactyly; hepatic fibrosis; and developmental delay. Within the ciliopathies, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Ellis-van Creveld syndrome, and the short-rib polydactyly syndromes resemble CED the most . These autosomal recessive skeletal ciliopathies are referred to as short-rib thoracic dysplasia in OMIM (OMIM PS208500). Table 4. Skeletal Ciliopathies of Interest in the Differential Diagnosis of Cranioectodermal Dysplasia

Genes	Disorder	Overlapping Features	Distinguishing Features
Skeletal abnormalities

Genetic testing for WDR35 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cranioectodermal dysplasia 2 has been reported in the published literature.

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 cranioectodermal dysplasia 2. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs of a newborn or infant diagnosed with cranioectodermal dysplasia (CED), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Cranioectodermal Dysplasia

System/Concern	Evaluation	Comment
craniosynostosis	Head CT exam in those w/dolichocephaly	To evaluate for craniosynostosis
Skeletal features	Radiograph of thorax long bones	Ectodermal
manifestations	Physical exam of skin, hair, nails, teeth	—
Dental anomalies	Dental eval	Nephronophthisis
Retinal dystrophy	Ophthalmologic eval	By age 4 yrs; ERG fundoscopy can be performed earlier if evidence of vision. Pulmonary manifestations (respiratory distress, asthma,
pneumothorax)

Source: GeneReviews — "Cranioectodermal Dysplasia"

GeneReviews

Clinical Guidance

If kidney disease is present, a nephrologist may recommend reduction of potassium and phosphorus from the diet. Nephrotoxic medications, including the NSAID class of drugs, may also be a relative contraindication in individuals with kidney involvement. Individuals should be under the care of a nephrologist, if indicated, to discuss what nephrotoxic agents to avoid.

Source: GeneReviews — "Cranioectodermal Dysplasia"

GeneReviews

Therapies Under Investigation

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

Source: GeneReviews — "Cranioectodermal Dysplasia"

Clinical Trials

View trials for cranioectodermal dysplasia 2

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with Cranioectodermal Dysplasia

System/Concern	Evaluation	Frequency
Dental anomalies	Dental exam to detect tooth damage oligodontia	Every 6 mos beginning at age 1 yr Nephronophthisis
Hepatic fibrosis	Measurement of transaminases synthetic liver function	Per clinical course per hepatologist after diagnosis Retinal
dystrophy	Ophthalmologic exams	Annually starting at age 4 yrs; ERG fundoscopy can be performed earlier if evidence of vision. Cardiac
malformations	Cardiac exam, EKG, echocardiography per cardiologist	Per clinical course per cardiologist recommendations, depending on initial findings after diagnosis Developmental
delay	Developmental eval	W/each visit during infancy childhood; Formal eval w/neuropsychologist if delays are present EKG = electrocardiogram; ERG = electroretinography

Source: GeneReviews — "Cranioectodermal Dysplasia"

Phenotype severity distribution: 19 always present features, 7 common features.

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 cranioectodermal dysplasia 2.

11 publications have been identified in PubMed for cranioectodermal dysplasia 2. Research spans Case Report / Case Series (64%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (9%).

Research Type	Count	% of Total
Patient case studies	7	64%
Testing and diagnosis research	2	18%
Research summaries	1	9%
Laboratory research	1	9%

Recent Publications

Kocagil S (2026). [PMID: 42137187](https://pubmed.ncbi.nlm.nih.gov/42137187/). *Mol Syndromol*. [Case Report / Case Series]
Aljeaid D (2026). [PMID: 42144731](https://pubmed.ncbi.nlm.nih.gov/42144731/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Ürel Demir G (2026). [PMID: 41876698](https://pubmed.ncbi.nlm.nih.gov/41876698/). *Pediatr Res*. [Basic Science / Preclinical]
Zhou C (2025). [PMID: 40445021](https://pubmed.ncbi.nlm.nih.gov/40445021/). *Prenat Diagn*. [Case Report / Case Series]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Berger R (2025). [PMID: 40148735](https://pubmed.ncbi.nlm.nih.gov/40148735/). *Pediatr Transplant*. [Case Report / Case Series]
Wójcik-Niklewska B (2025). [PMID: 40647705](https://pubmed.ncbi.nlm.nih.gov/40647705/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
Sezer A (2025). [PMID: 40615527](https://pubmed.ncbi.nlm.nih.gov/40615527/). *Eur J Hum Genet*. [Case Report / Case Series]
Margiotti K (2024). [PMID: 39594267](https://pubmed.ncbi.nlm.nih.gov/39594267/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
Nagayama S (2024). [PMID: 38637985](https://pubmed.ncbi.nlm.nih.gov/38637985/). *Congenit Anom (Kyoto)*. [Case Report / Case Series]

Kisho

cranioectodermal dysplasia 2

Overview

Clinical Presentation

Clinical Guidance

Frequent (75%)

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

cranioectodermal dysplasia 2

Overview

Clinical Presentation

Clinical Guidance

Frequent (75%)

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team