Gerodermia Osteodysplastica
| Disorder | |
|---|---|
| OMIM #: | #231070 (Click to access OMIM database) |
| Disorder: | Gerodermia Osteodysplastica |
| Also known as: | Walt Disney Dwarfism |
| Clinical | |
| Phenotype: | maxillary hypoplasia, facial drooping, deep-set eyes, loose redundant skin, other skin abnormalities, vertebral defects, fractures, camptodactyly, joint hypermobility, growth deficiency, osteoporosis, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | GORAB |
| Base Change: | G>T, at nucleotide 442 |
| Amino Acid Change: | glu 148 --> term |
| Last updated: | 2022-11-04 |
| References |
|---|
| Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet Dec;40(12):1410-2. PubMed ID: 18997784 |
| Hunter AG, Martsolf JT, Baker CG, Reed MH. (1978) Geroderma osteodysplastica. A report of two affected families. Hum Genet Feb 16;40(3):311-24. PubMed ID: 631850 |
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