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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pontine tegmental cap dysplasia


Other Names for this Disease
  • PTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Pontine tegmental cap dysplasia?

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.[1][2]

 

 

Last updated: 5/24/2016

The Human Phenotype Ontology provides the following list of signs and symptoms for Pontine tegmental cap dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Intellectual disability 90%
Ankle clonus 5%
Hypoplasia of the corpus callosum 5%
Seizures 5%
Absent speech -
Aspiration -
Chewing difficulties -
Decreased corneal sensation -
Dysmetria -
Facial palsy -
Failure to thrive -
Feeding difficulties -
Head titubation -
Hearing impairment -
Hemivertebrae -
Muscular hypotonia -
Nystagmus -
Oculomotor apraxia -
Phenotypic variability -
Ptosis -
Rib fusion -
Scoliosis -
Strabismus -

Last updated: 7/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. 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.
  2. Cassandra L. Kniffin. PONTINE TEGMENTAL CAP DYSPLASIA; PTCD. OMIM. 6/18/2012; http://omim.org/entry/614688.


Other Names for this Disease
  • PTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.