National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pontine tegmental cap dysplasia


Other Names:
PTCD
Categories:
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] 
Last updated: 5/24/2016
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]

 

 

Last updated: 5/24/2016

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.

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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
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Last updated: 7/1/2020
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]
Last updated: 5/24/2016
The long-term outlook (prognosis) of pontine tegmental cap dysplasia (PTCD) varies. Language disorders are a constant feature in PTCD and may result in a range of symptoms including complete absence of verbal language, sign language only, and understandable speech with moderate to severe problems in both being able to understand and to express oneself. The neurological outcome of PTCD is also variable, ranging from severe intellectual disability to normal intelligence.[2]
Last updated: 5/24/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

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).

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Has it been determined if pontine tegmental cap dysplasia is genetic? See answer

  • My 9 month old granddaughter was recently diagnosed with pontine tegmental cap dysplasia. We realize this is an extraordinarily rare condition and we are looking for an explanation of this condition. See answer


  1. What is pontine tegmental cap dysplaisa?. UW Hindbrain Malformation Research Program. 2012; http://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. http://www.ncbi.nlm.nih.gov/pubmed/21651769.
  3. Cassandra L. Kniffin. PONTINE TEGMENTAL CAP DYSPLASIA; PTCD. OMIM. 6/18/2012; http://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. http://www.ncbi.nlm.nih.gov/pubmed/26331236.