Rhizomelic chondrodysplasia punctata

Signs and symptoms

Rhizomelic chondrodysplasia punctata has the following symptoms:

• Bilateral shortening of the femur, resulting in short legs
• Post-natal growth problems (deficiency)
• Cataracts
• Intellectual disability
• Possible seizures
• Possible infections of respiratory tract

Genetics

This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner.

Pathophysiology

The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition involves a defect in PEX7, whose product is involved in peroxisome assembly. There are 3 pathways that depend on peroxisomal biogenesis factor 7 activities, including:

• AGPS (catalyzes plasmalogen biosynthesis)
• PhYH (catalyzes catabolism of phytanic acid)
• ACAA1 (catalyzes beta-oxidation of VLCFA - straight)

Diagnosis

The diagnosis of rhizomelic chondrodysplasia punctata can be based on genetic testing as well as radiography results, plus a physical examination of the individual.

Types

• Type 1 (RCDP1) is associated with PEX7 mutations; these are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
• Type 2 (RCDP2) is associated with DHAPAT mutations.
• Type 3 (RCDP3) is associated with AGPS mutations.

Treatment

Management of rhizomelic chondrodysplasia punctata can include physical therapy; additionally orthopedic procedures improved function sometimes in affected people.

Prognosis

The prognosis is poor in this condition, and most children die before the age of 10. However, some survive to adulthood, especially if they have a non-classical (mild) form of RCDP.

Children with classical, or severe, RCDP1 have severe developmental disabilities. Most of them achieve early developmental skills, such as smiling, but they will not develop skills expected from a baby older than six months (such as feeding themselves or walking). By contrast, children with non-classical mild RCDP1 often learn to walk and talk.

References

References

1. "Rhizomelic chondrodysplasia punctata type 1". US National Library of Medicine.
2. Reference, Genetics Home. "rhizomelic chondrodysplasia punctata".
3. "Rhizomelic chondrodysplasia punctata type 1". US National Library of Medicine.
4. "Rhizomelic chondrodysplasia punctata". Orphanet.
5. Braverman, Nancy E.. (2020). "Rhizomelic Chondrodysplasia Punctata Type 1". GeneReviews.
6. {{OMIM. 222765. Rhizomelic Chondrodysplasia Punctata, Type 2; RCDP2
7. {{OMIM. 600121. Rhizomelic Chondrodysplasia Punctata, Type 3; RCDP3