| Short rib–polydactyly syndrome |
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Short rib–polydactyly syndrome is a family of four closely related dysplasias:
- I – "Saldino-Noonan type"
- II – "Majewski type"
- III – "Verma-Naumoff type" (associated with DYNC2H1)[1]
- IV – "Beemer-Langer type"
References
- ↑ "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. April 2009. doi:10.1016/j.ajhg.2009.03.015. PMID 19361615.
External links
| Classification | D - ICD-10: Q77.2
- ICD-9-CM: 756.5
- OMIM: 263530 Online Mendelian Inheritance in Man (OMIM) 263520 Online Mendelian Inheritance in Man (OMIM) 263510 Online Mendelian Inheritance in Man (OMIM) 269860
- DiseasesDB: 32791
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Osteochondrodysplasia |
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Osteodysplasia//
osteodystrophy | | Diaphysis |
- Camurati–Engelmann disease
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| Metaphysis |
- Metaphyseal dysplasia
- Jansen's metaphyseal chondrodysplasia
- Schmid metaphyseal chondrodysplasia
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| Epiphysis |
- Spondyloepiphyseal dysplasia congenita
- Multiple epiphyseal dysplasia
- Otospondylomegaepiphyseal dysplasia
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| Osteosclerosis |
- Raine syndrome
- Osteopoikilosis
- Osteopetrosis
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| Other/ungrouped |
- FLNB
- Opsismodysplasia
- Polyostotic fibrous dysplasia
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Chondrodysplasia/
chondrodystrophy
(including dwarfism) | | Osteochondroma |
- osteochondromatosis
- Hereditary multiple exostoses
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| Chondroma/enchondroma |
- enchondromatosis
- Ollier disease
- Maffucci syndrome
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| Growth factor receptor | | FGFR2: | |
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| FGFR3: |
- Achondroplasia
- Thanatophoric dysplasia
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| COL2A1 collagen disease |
- Achondrogenesis
- Hypochondrogenesis
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| SLC26A2 sulfation defect |
- Achondrogenesis
- Autosomal recessive multiple epiphyseal dysplasia
- Atelosteogenesis, type II
- Diastrophic dysplasia
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| Chondrodysplasia punctata |
- Rhizomelic chondrodysplasia punctata
- Conradi–Hünermann syndrome
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| Other dwarfism |
- Fibrochondrogenesis
- Short rib – polydactyly syndrome
- Majewski's polydactyly syndrome
- Léri–Weill dyschondrosteosis
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 | Original source: https://en.wikipedia.org/wiki/Short rib–polydactyly syndrome. Read more |
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