Amish, Mennonite, and Hutterite
Genetic Disorder Database

Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1)

Disorder
OMIM #: #215100  (Click to access OMIM database)
Disorder: Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1) 
Also known as: PEROXISOME BIOGENESIS DISORDER 9
PBD9
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA, CDPR 
Clinical
Phenotype: Rhizomelia, punctate calcifications in cartilage (Chondrodysplasia punctata), epiphyseal and metaphyseal abnormalities, coronal clefts of the vertebral bodies, cataracts, intellectual disability, seizures, growth retardation  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: PEX7
Base Change:
Amino Acid Change:
Last updated: 2018-12-14 

References
Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J, Moser A. (1990) Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. Clin Genet Aug;38(2):84-93.
PubMed ID: 2208770 
White AL, Modaff P, Holland-Morris F, Pauli RM. (2003) Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A 118A(4):332-42.
PubMed ID: 12687664 

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