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ossification anomalies-psychomotor developmental delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ossification anomalies-psychomotor developmental delay syndrome

MONDO:0019131

Overview

Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.

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.

Features include common findings: Narrow chest, Abnormal diaphysis morphology, Global developmental delay, and Generalized hypotonia and others; and sometimes findings: Shallow orbits, Abnormal thorax morphology, Thin ribs, and Absent speech and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Absent speech, Difficulty swallowing (dysphagia), Enlarged brain ventricles (ventriculomegaly)

Diagnosis

Biomarker and diagnostic research for ossification anomalies-psychomotor developmental delay syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 14 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 ossification anomalies-psychomotor developmental delay syndrome.

13 publications have been identified in PubMed for ossification anomalies-psychomotor developmental delay syndrome. Research spans Basic Science / Preclinical (58%), Case Report / Case Series (25%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Laboratory research	7	58%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:73230

GARD

Genetic and Rare Diseases Info Center

GARD:18921

Questions for Your Care Team

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Kisho

ossification anomalies-psychomotor developmental delay syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ossification anomalies-psychomotor developmental delay syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications