Here I present: “OSMED Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 耳海綿體增生膜發育不良。icd10=Q77.7
INTRODUCTION.
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing (oto–) and the bones of the spine (spondylo–) and enlarges the ends of bones (megaepiphyses).
Weissenbacher-Zweymuller syndrome (WZS) and Stickler syndrome have significant clinical overlap, according to OSMED. While the absence of visual defects distinguishes OSMED from Stickler syndrome early in childhood, the distinction between OSMED and WZS (both caused by heterozygous mutations in the COL11A2 gene) may be more difficult.
There is evidence that autosomal dominant otospondylomegaepiphyseal dysplasia (OSMED), is caused by heterozygous mutation in the COL11A2 gene on cytogenetic location 6p21.32 and genomic coordinates 6:33,162,694-33,193,519. The screenshot of the COL11A2 gene 30,826 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides COL11A2 in the 6p21.32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:32,968,594 | BRD2 | Bromodomain-containing protein 2 |
| 6:33,004,182 | HLA-DNA | Major histocompatibility complex, class II, DN alpha |
| 6:33,064,569 | HLA-DPA1 | Major histocompatibility complex, class II, DP alpha-1 |
| 6:33,075,990 | HLA-DPB1 | Major histocompatibility complex, class II, DP beta-1 |
| 6:33,162,694 | COL11A2 | Collagen XI, alpha-2 polypeptide |
| 6:33,193,588 | RXRB | Retinoid X receptor, beta |
| 6:33,200,867 | SLC39A7 | Solute carrier family 39 |
| 6:33,204,655 | HSD17B8 | Hydroxysteroid (17-beta) dehydrogenase 8 |
| 6:33,207,835 | MRI219-1 | Micro RNA 219-1 |
| 6:33,208,500 | RING1 | RING finger protein-1 |
