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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pontine tegmental cap dysplasia


Other Names for this Disease
  • PTCD
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Your Question

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.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is pontine tegmental cap dysplasia?

Pontine tegmental cap dysplasia (PTCD) is a non-progressive 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 devlopmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The cause of this condition is unknown.The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech.[2] To date, the condition has been identified in less than 20 patients.[3]
Last updated: 5/3/2012

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

Patients with PTCD present with a variety of medical and developmental problems. Not all patients will have the same issues and the severity of the issue 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. Affected individuals may also have abnormalities of the heart, gastrointestinal tract, genitourinary system and skeleton.[2]

Last updated: 4/27/2012

What causes pontine tegmental cap dysplasia?

The cause of PTCD is still unknown. Researchers think that this condition may happen due to a problem with the movement of cells in the developing brain (neuronal migration). Boys and girls are equally affected by this condition. All reported cases have been sporadic with no family history of the condition.[2]
Last updated: 4/27/2012

What is the prognosis of pontine tegmental cap dysplasia?

The prognosis of PTCD-appears to be very variable. Language disorders are a constant feature in PTCD and may result in complete absence of verbal language, sign language only, understandable speech with moderate to severe problems in both being able to understand and to express oneself.  The neurological outcome of PTCD patients is also variable, ranging from severe intellectual disability up to normal intelligence.[2]
Last updated: 4/27/2012

References