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chondrodysplasia punctata (CDP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chondrodysplasia punctata

MONDO:0019701

Also known as:CDPchondrodysplasia calcificans congenitachondrodysplasia punctata (stippled epiphyses) Group

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Overview

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.

OnsetANTENATAL

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: before birth.

GeneReviews

Clinical Guidance

NSDHL-related disorders include CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked disorder that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males.

CHILD Syndrome

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

For the purposes of this GeneReview, the terms "male" and "female" are narrowly defined as the individual's biological sex at birth as it determines clinical care . No consensus clinical diagnostic criteria for NSDHL-related disorders have been published.

Suggestive Findings

An NSDHL-related disorder should be suspected in an individual with features of CHILD (congenital hemidysplasia with ichthyosiform nevus [also known as ichthyosiform erythroderma] and limb defects) syndrome (typically in females) or CK syndrome (intellectual disability and associated features in males) as follows.

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 chondrodysplasia punctata. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for NSDHL-related disorders have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with CHILD syndrome and CK syndrome.

Evaluations Following Initial Diagnosis

CHILD syndrome. To establish the extent of disease and needs in an individual diagnosed with CHILD syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in and are recommended. Table 6a. CHILD Syndrome: Recommended Surveillance

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

40 publications have been identified in PubMed for chondrodysplasia punctata. Research spans Case Report / Case Series (54%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Patient case studies	20	54%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93442

GARD

Genetic and Rare Diseases Info Center

GARD:8542

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

chondrodysplasia punctata

Overview

Clinical Presentation

Clinical Guidance

CHILD Syndrome

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Integument

Musculoskeletal

Neurologic

Cardiac

Pulmonary

Genitourinary

Genetic counseling

Therapies Under Investigation

Clinical Trials

Recent Publications

chondrodysplasia punctata

Overview

Clinical Presentation

Clinical Guidance

CHILD Syndrome

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Integument

Musculoskeletal

Neurologic

Cardiac

Pulmonary

Genitourinary

Genetic counseling

Therapies Under Investigation

Clinical Trials

Recent Publications