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Living with Rhizomelic chondrodysplasia punctata type 1

A rare inherited condition affecting bone growth, facial features, learning, and breathing.

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Understanding Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a rare inherited condition that affects the development of many parts of the body.

Main features include bone differences, distinctive facial features, intellectual disability, and breathing problems. GARD says the types have similar features and are told apart by their genetic cause.

Signs & symptoms

GARD doesn't list specific symptoms for this condition yet. Its summary describes these:

  • Bone differences
  • Distinctive facial features
  • Intellectual disability
  • Breathing problems

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.

  3. Consider genetic testing

    Changes in PEX7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    Epilepsy Foundation and United Leukodystrophy Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
Expert care
Expert lists: Epilepsy Foundation, United Leukodystrophy Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with The MAGIC Foundation and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Should we have genetic testing for the PEX7 gene?
What supports could help with breathing and development?
Which specialists should be on my child's care team?

Quick facts

InheritanceAutosomal Recessive
GenesPEX7

It is caused by changes in the PEX7 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.

GeneticNeurologicalInherited Metabolic

Also known as: chondrodystrophia calcificans punctata; pbd9; peroxisome biogenesis disorder 9; pex7 rhizomelic chondrodysplasia punctata; rcdp1; rhizomelic chondrodysplasia punctata caused by mutation in pex7

Patient organizations

Source: NIH GARD · Rhizomelic chondrodysplasia punctata type 1GARD ID 6049 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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Explore research for Rhizomelic chondrodysplasia punctata type 1

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