Short rib – polydactyly syndrome

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

1. ↑ "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. PMC 2667993. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00112-8.

## External links

Classification|

* ICD-10: Q77.2
* ICD-9-CM: 756.5
* OMIM: 263530 263520 263510 269860
* DiseasesDB: 32791

|

* v
* t
* e

Osteochondrodysplasia

Osteodysplasia//
osteodystrophy|

| Diaphysis|

* Camurati–Engelmann disease

|

Metaphysis|

* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia

Epiphysis|

* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia

Osteosclerosis|

* Raine syndrome
* Osteopoikilosis
* Osteopetrosis

Other/ungrouped|

* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome

Chondrodysplasia/
chondrodystrophy
(including dwarfism)|

| Osteochondroma|

* osteochondromatosis
* Hereditary multiple exostoses

|

Chondroma/enchondroma|

* enchondromatosis
* Ollier disease
* Maffucci syndrome

Growth factor receptor|

| FGFR2:|

* Antley–Bixler syndrome

|

FGFR3:|

* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia

COL2A1 collagen disease|

* Achondrogenesis
* type 2
* Hypochondrogenesis

SLC26A2 sulfation defect|

* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia

Chondrodysplasia punctata|

* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome

Other dwarfism|

* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis

0.00

(0 votes)

|

Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Short_rib_–_polydactyly_syndrome&oldid=1014061"
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template