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multiple congenital anomalies due to 14q32.2 paternally expressed gene defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple congenital anomalies due to 14q32.2 paternally expressed gene defect

MONDO:0100507

Also known as:Temple syndrome

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Overview

Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for multiple congenital anomalies due to 14q32.2 paternally expressed gene defect has been reported in the published literature.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

19 publications have been identified in PubMed for multiple congenital anomalies due to 14q32.2 paternally expressed gene defect. Research spans Case Report / Case Series (58%), Other (11%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	11

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 1 active clinical trial 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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multiple congenital anomalies due to 14q32.2 paternally expressed gene defect

Overview

Diagnosis

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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