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Disease Profile

Pontine tegmental cap dysplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q04.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

PTCD

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.[1] Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with 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.[2]

Symptoms

Patients with pontine tegmental cap dysplasia (PTCD) present with a variety of medical and developmental problems. Not all patients will have the same issues and the severity of symptoms may differ. The following features have been found in studies of patients with PTCD: hearing impairment, feeding and swallowing difficulties that often lead to pneumonia, intellectual disability that ranges from mild to severe, speech and language disorders, hypotonia, ataxia, facial paralysis, reduced vision, and behavioral problems. Individuals with PTCD may also have abnormalities of the heart, gastrointestinal tract, genitourinary system and skeleton.[2][3]

 

 

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
5%-29% of people have these symptoms
Ankle clonus
Abnormal rhythmic movements of ankle
0011448
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Seizure
0001250
1%-4% of people have these symptoms
Hyperreflexia
Increased reflexes
0001347
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Aspiration
0002835
Decreased corneal sensation
0012155
Dysmetria
Lack of coordination of movement
0001310
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Facial palsy
Bell's palsy
0010628
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
0001263
Head titubation
0002599
Hemivertebrae
Missing part of vertebrae
0002937
Impaired mastication
Chewing difficulties
Chewing difficulty
Difficulty chewing

[ more ]

0005216
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Oculomotor apraxia
0000657
Pontine tegmental cap
0030975
Ptosis
Drooping upper eyelid
0000508
Rib fusion
Fused ribs
0000902
Scoliosis
0002650
Sensorineural hearing impairment
0000407
Sporadic
No previous family history
0003745
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486

Cause

The cause of pontine tegmental cap dysplasia PTCD is unknown. To date, all reported cases have been sporadic with no family history of the condition. Researchers have suggested different processes that may lead to PTCD including:

  • A problem with the movement of cells in the developing brain (neuronal migration)
  • A disorder of ciliary proteins, structures that play a vital role in human development and everyday functioning
  • Impaired axonal guidance, part of neural development involving how neurons (nerve cells) send axons (nerve fibers) out to reach correct targets

More research is needed for the scientific community to form a consensus on the underlying cause or causes of PTCD.[2][4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pontine tegmental cap dysplasia. Click on the link to view a sample search on this topic.

References

  1. What is pontine tegmental cap dysplaisa?. UW Hindbrain Malformation Research Program. 2012; https://depts.washington.edu/joubert/pontinetegmentalcapdysplasia.php.
  2. Briguglio M, Pinelli L, Giordano L, et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011; 6:36. https://www.ncbi.nlm.nih.gov/pubmed/21651769.
  3. Cassandra L. Kniffin. PONTINE TEGMENTAL CAP DYSPLASIA; PTCD. OMIM. 6/18/2012; https://omim.org/entry/614688.
  4. B. Harding, A. Vossough, E. Goldberg, M. Santi. Pontine tegmental cap dysplasia: neuropathological confirmation of a rare clinical/radiological syndrome. Neuropathology and Applied Neurobiology. April 2016; 42(3):301-306. https://www.ncbi.nlm.nih.gov/pubmed/26331236.

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