Rhizomelic Chondrodysplasia Punctata, type 1
| Disorder | |
|---|---|
| OMIM #: | #215100 (Click to access OMIM database) |
| Disorder: | Rhizomelic Chondrodysplasia Punctata, type 1 |
| Also known as: | RCDP1 PEROXISOME BIOGENESIS DISORDER 9 PBD9 CHONDRODYSTROPHIA CALCIFICANS PUNCTATA, CDPR |
| Clinical | |
| Phenotype: | rhizomelia, chondrodysplasia punctata, epiphyseal and metaphyseal abnormalities, coronal clefts of the vertebral bodies, microcephaly, micrognathia, ichthyosis, alopecia, respiratory insufficiency, cataracts, developmental delay, seizures, growth deficiency |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | PEX7 |
| Base Change: | |
| Amino Acid Change: | |
| Last updated: | 2023-02-02 |
| 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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