Table 1 Current classification of the spondyloepiphyseal dysplasias and related disorders
From: Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
Mode of inheritance | OMIM syndrome | Chromosome locus | Gene | Protein | OMIM gene/protein | |
|---|---|---|---|---|---|---|
X-linked SED tarda | XL | 313400 | Xp22.2–p22.1 | SEDL | SEDLIN | 300202 |
SEMD Handigodu type | AD | |||||
Progressive pseudorheumatoid dysplasia | AR | 208230 | 6q22–q23 | WISP3 | 603400 | |
Dyggve–Melchior–Clausen dysplasia | AR | 223800 | 18q21.1 | |||
Wolcott–Rallison dysplasia | AR | 226980 | 2p12 | EIF2AK3 | transcription factor | 604032 |
Immunoosseous dysplasia (Schimke) | AR | 242900 | 2q35 | SMARCAL1 | Transcription factor | 606622 |
Schwartz–Jampel syndrome | AR | 255800 | 1q36–34 | PLC (HSPG2) | Perlecan | 142461 |
SEMD with joint laxity (SEMDJL) | AR | 271640 | ||||
SEMD with dislocations (Hall) (leptodactylic type) | ||||||
Sponastrime dysplasia | AR | 271510 | ||||
SEMD short limb – abnormal calcification type | AR | 271665 | ||||
SEMD Pakistani type | AR | 603005 | 10q23–24 | PAPSS2 | PAPSS2 | 603005 |
