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pontine tegmental cap dysplasia (PTCD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontine tegmental cap dysplasia

MONDO:0013858

Also known as:PTCD

Overview

Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.

GeneticsSporadic (not inherited)

ResearchLimited published research (3 articles)

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 always present findings: Overactive reflexes (hyperreflexia); and very common findings: Intellectual disability. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Ataxia, Intellectual disability

Diagnosis

Biomarker and diagnostic research for pontine tegmental cap dysplasia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature.

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 pontine tegmental cap dysplasia.

3 publications have been identified in PubMed for pontine tegmental cap dysplasia. Research spans Case Report / Case Series (67%) and Diagnostic / Biomarker (33%).

Recent Publications

Nyila T (2025). [PMID: 41393699](https://pubmed.ncbi.nlm.nih.gov/41393699/). *Cureus*. [Case Report / Case Series]
Wang LS (2025). [PMID: 41330586](https://pubmed.ncbi.nlm.nih.gov/41330586/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Diagnostic / Biomarker]
Maree M (2025). [PMID: 39868068](https://pubmed.ncbi.nlm.nih.gov/39868068/). *Radiol Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614688

Orphanet

European rare disease database

Orphanet:269229

GARD

Genetic and Rare Diseases Info Center

GARD:10919

Questions for Your Care Team

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pontine tegmental cap dysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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