Short Rib – Polydactyly Syndrome

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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

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

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

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Categories: [Syndromes]

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