Short rib – polydactyly syndrome

Short rib – polydactyly syndrome
Classification and external resources
ICD-10	Q 77.2
ICD-9	756.5
OMIM	263530 263520 263510 269860
DiseasesDB	32791 32793 32792 32795
MeSH	C05.116.099.708.857

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

^ Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00112-8.

Osteochondrodysplasia (Q77–Q78, 756.4–756.5)

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) · 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

M: BON/CAR

anat(c/f/k/f, u, t/p, l)/phys/devp/cell

noco/cong/tumr, sysi/epon, injr

proc, drug(M5)

Cytoskeletal defects

Microfilaments

Myofilament

Actin	Hypertrophic cardiomyopathy 11 · Dilated cardiomyopathy 1AA · DFNA20 · Nemaline myopathy 3

Myosin	Elejalde syndrome · Hypertrophic cardiomyopathy 1, 8, 10 · Usher syndrome 1B · Freeman–Sheldon syndrome · DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 · May-Hegglin anomaly

Troponin	Hypertrophic cardiomyopathy 7, 2 · Nemaline myopathy 4, 5

Tropomyosin	Hypertrophic cardiomyopathy 3 · Nemaline myopathy 1

Titin	Hypertrophic cardiomyopathy 9

Other

Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 (Striate palmoplantar keratoderma 3, Epidermolytic hyperkeratosis, IHCM) · KRT2E (Ichthyosis bullosa of Siemens) · KRT3 (Meesmann juvenile epithelial corneal dystrophy) · KRT4 (White sponge nevus) · KRT5 (Epidermolysis bullosa simplex) · KRT8 (Familial cirrhosis) · KRT10 (Epidermolytic hyperkeratosis) · KRT12 (Meesmann juvenile epithelial corneal dystrophy) · KRT13 (White sponge nevus) · KRT14 (Epidermolysis bullosa simplex) · KRT17 (Steatocystoma multiplex) · KRT18 (Familial cirrhosis) · KRT81/KRT83/KRT86 (Monilethrix) · Naegeli–Franceschetti–Jadassohn syndrome · Reticular pigmented anomaly of the flexures

3	Desmin: Desmin-related myofibrillar myopathy · Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis

4	Neurofilament: Parkinson's disease · Charcot–Marie–Tooth disease 1F, 2E · Amyotrophic lateral sclerosis

5	Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)

Microtubules

Kinesin	Charcot–Marie–Tooth disease 2A · Hereditary spastic paraplegia 10

Dynein	Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3

Other	Tauopathy · Cavernous venous malformation

Membrane

Spectrin: Spinocerebellar ataxia 5 · Hereditary spherocytosis 2, 3 · Hereditary elliptocytosis 2, 3

Ankyrin: Long QT syndrome 4 · Hereditary spherocytosis 1

Catenin

APC (Gardner's syndrome, Familial adenomatous polyposis) · plakoglobin (Naxos syndrome) · GAN (Giant axonal neuropathy)

Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk