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pseudoachondroplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Brachydactyly and Sideways curvature of the spine (scoliosis); and very common findings: Genu varum, Metaphyseal irregularity, Irregular epiphyses, and Platyspondyly and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	11	Carpal bone hypoplasia, Excessive inward curve of the lower back (lumbar hyperlordosis), Flared femoral metaphysis
Arms and legs	6	Ulnar deviation of the hand, Short distal phalanx of finger, Disproportionate short-limb short stature
Brain and nerves	3	Waddling gait, Intellectual disability, Sensory neuropathy
Growth and development	2	Disproportionate short-limb short stature, Childhood onset short-limb short stature

Age of onset: childhood.

GeneReviews

Clinical Guidance

COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by disproportionate short-limb short stature. Intrafamilial and interfamilial variability are observed. Natural history is well documented . To date, more than 500 individuals have been identified with COMP-PSACH. The following description of the phenotypic features associated with this condition is based on these reports. Growth. Affected individuals are generally of normal length at birth. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to moderately severe disproportionate short-limb short stature. Growth curves for COMP-PSACH have been developed . Mean adult height is 116 cm for females and 120 cm for males . Facies.

Source: GeneReviews — "COMP-Related Pseudoachondroplasia"

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 pseudoachondroplasia. 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 COMP-related pseudoachondroplasia (COMP-PSACH), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. COMP-Related Pseudoachondroplasia: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Growth	Height measurement plotting of growth on COMP-PSACH growth chart	Skeletal manifestations
Genetic counseling	By genetics professionals2	To inform affected persons their families re nature, MOI, implications of COMP-PSACH to facilitate medical personal decision making COMP-PSACH = COMP-related pseudoachondroplasia; MOI = mode of inheritance 1. 2.
COMP-Related Pseudoachondroplasia: Treatment of Manifestations Manifestation	Treatment	Considerations/Other
Joint pain	Analgesics	No systematic studies have evaluated effectiveness of various forms of pain control in COMP-PSACH. Encourage physical activities that do not accelerate joint degeneration.
Lower limb malalignment	Osteotomy1

Source: GeneReviews — "COMP-Related Pseudoachondroplasia"

GeneReviews

Clinical Guidance

In the small fraction of individuals with odontoid hypoplasia, extreme neck flexion and extension should be avoided.

Source: GeneReviews — "COMP-Related Pseudoachondroplasia"

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 — "COMP-Related Pseudoachondroplasia"

Clinical Trials

View trials for pseudoachondroplasia

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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 are recommended. Table 5. COMP-Related Pseudoachondroplasia: Recommended Surveillance

System/Concern	Evaluation	Frequency
Growth	Height measurement plotting of growth on COMP-PSACH growth chart	At each visit throughout childhood Skeletal manifestations
Neurologic manifestations	Assess for signs/symptoms of spinal cord compression secondary to odontoid hypoplasia	At each visit in early childhood Eval of cervical vertebrae by flexion/extension radiographs or cervical spine MRI, esp in persons w/neurologic symptoms suggestive of cord compression
Psychosocial	Assess for psychosocial issues related to short stature, incl stigmatization discrimination	Annually or at each visit COMP-PSACH = COMP-related pseudoachondroplasia

Source: GeneReviews — "COMP-Related Pseudoachondroplasia"

Phenotype severity distribution: 2 always present features, 5 very common features, 3 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 pseudoachondroplasia.

15 publications have been identified in PubMed for pseudoachondroplasia. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (27%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	5	33%
Patient case studies	4	27%
Disease patterns and progression	3	20%
Laboratory research	2	13%
Other research	1	7%

Recent Publications

Ni X (2026). [PMID: 41798190](https://pubmed.ncbi.nlm.nih.gov/41798190/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Taner HE (2026). [PMID: 42074581](https://pubmed.ncbi.nlm.nih.gov/42074581/). *Genes (Basel)*. [Epidemiology / Natural History]
Fagereng E (2025). [PMID: 40069831](https://pubmed.ncbi.nlm.nih.gov/40069831/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Dennis EP (2025). [PMID: 41155349](https://pubmed.ncbi.nlm.nih.gov/41155349/). *Int J Mol Sci*. [Review / Meta-Analysis]
Hecht JT (2025). [PMID: 40291262](https://pubmed.ncbi.nlm.nih.gov/40291262/). *Cureus*. [Case Report / Case Series]
Petryka L (2025). [PMID: 40249137](https://pubmed.ncbi.nlm.nih.gov/40249137/). *Lab Med*. [Review / Meta-Analysis]
Dietmar HF (2025). [PMID: 41465495](https://pubmed.ncbi.nlm.nih.gov/41465495/). *Int J Mol Sci*. [Basic Science / Preclinical]
Miao Y (2025). [PMID: 40985600](https://pubmed.ncbi.nlm.nih.gov/40985600/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Stücker S (2025). [PMID: 41278200](https://pubmed.ncbi.nlm.nih.gov/41278200/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Li Q (2025). [PMID: 40393755](https://pubmed.ncbi.nlm.nih.gov/40393755/). *Zhonghua Er Ke Za Zhi*. [Case Report / Case Series]

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pseudoachondroplasia

Overview

Clinical Presentation

Clinical Guidance

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Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

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Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

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Therapies Under Investigation

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Prognosis

Surveillance Guidelines

Research Landscape

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pseudoachondroplasia

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

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

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team