Orthopedics > OCOSH Classification > Bone Diseases > Bone Developmental Diseases > Osteochondrodysplasia > Chondrodysplasia Punctata > Rhizomelic Chondrodysplasia Punctata > RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 RCDP1

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RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 RCDP1

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215100

Description: rhizomelic chondrodysplasia punctata type 1 is caused by mutations in the PEX7 gene (601757), which encodes the peroxisomal type 2 targeting signal (PTS2) receptor. RCDP is a rare, multisystem, developmental disorder, characterized by the presence of stippled foci of calcification in hyaline cartilage, coronal vertebral clefting, dwarfing, joint contractures, congenital cataract, ichthyosis, and severe mental retardation.

Type: Reference Material
Author/Contact: Not available
Institution: Online Mendelian Inheritance in Man
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Language: English

Submitted by: admin
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Added: Thu Nov 30 2006