Rhizomelic Chondrodysplasia Punctata

Also known as

  • RCDP

RCDP is a form of dwarfism, with it comes learning difficulties, cataracts in both eyes, shortened long bones, flattened nose, low-set ears. There is also possible scoliosis. General growth is limited. The most marked sign is stippling on the end of the long bones - seen only under x-ray.

Condition details

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Photos of affected individuals

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Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • Pex 7 Dha-pat

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

How many are affected?

Around 40 children worldwide are known to be affected

Support groups and organisations

Mrs Marie Swinnerton
Rhizo Kids UK
UK
Tel
Facebook
Rhizokids international
50 Cross Creek Lane
Alpin
AL 35014
United States
Tel
Facebook https://www.facebook.com/groups/RhizomelicChondrod

Known experts

Dr Nancy Braverman
Field of interestAssistant Professor, Pediatrics
Johns Hopkins University
Medical Genetics
Johns Hopkins Outpatient Clinic
601 North Caroline Street
Baltimore
MD 21205
United States
Tel 410-955-3071
Facebook
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