Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata
Classification and external resources
ICD-10	Q77.3
ICD-9	277.86
OMIM	215100 222765 600121
DiseasesDB	31410
MeSH	D018902

Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts.^[1]

Types

Type 1 (RCDP1) is associated with PEX7 mutations . These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
Type 2 (RCDP2) is associated with DHAPAT mutations
Type 3 (RCDP3) is associated with AGPS mutations

External links

GeneReviews/NCBI/NIH/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1

References

↑ Braverman, N.E., Moser AB, Steinberg, S.J. 2010. Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2001 Nov 16 [updated 2010 Mar 02].

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

SLC26A2 sulfation defect

Chondrodysplasia punctata

Other dwarfism

Index of bones and cartilage

Description	Anatomy bones skull face neurocranium compound structures foramina upper extremity torso pelvis lower extremity Physiology Development Cells

Disease	Congenital Neoplasms and cancer Trauma fracture Other Symptoms and signs eponymous

Treatment	Procedures Drugs Surgery approaches

Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders (E80.3, 277.86)

Peroxisome biogenesis disorder

Enzyme-related

Transporter-related

X-linked adrenoleukodystrophy

Lysosomal

Danon disease

See also: proteins, intermediates

Index of cells

Description	Structure nucleus chromosome genetics Organelles peroxisome cytoskeleton centrosome epithelia cilia mitochondria Membranes proteins cell adhesions Membrane transport ion channels vesicular transport solute carrier ABC transporters ATPase oxidoreduction-driven

Disease	Structural peroxisome cytoskeleton cilia mitochondria nucleus scleroprotein Membrane channelopathy solute carrier ATPase ABC transporters other extracellular ligands cell surface receptors intracellular signalling Vesicular transport Pore-forming toxins