" /> Rhizomelic chondrodysplasia punctata type 1 - CISMeF





Preferred Label : Rhizomelic chondrodysplasia punctata type 1;

ICD-11 definition : This is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.;

ICD-11 synonym : PTS2 receptor deficiency; PEX7 deficiency; RCDP1 - [rhizomelic chondrodysplasia punctata type 1];

ICD-11 acronym : RCDP1;

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This is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.

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03/05/2025


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