Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata
Classification and external resources
ICD-10	Q 77.3
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 congential cataracts.^[1]

1 Types
2 Additional sources of information
3 External links
4 References

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

Additional sources of information

Rhizo Kids^[2]

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].
^ http://www.rhizomelicchondrodysplasiapunctata.com/

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)

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

Peroxisome biogenesis disorder	Zellweger syndrome · Autosomal adrenoleukodystrophy · Infantile Refsum disease · Adult Refsum disease-2 · RCP 1

Enzyme-related	Acatalasia · RCP 2&3 · Mevalonate kinase deficiency · D-bifunctional protein deficiency · Adult Refsum disease-1

Transporter-related	X-linked adrenoleukodystrophy/Adrenomyeloneuropathy

Lysosomal	Danon disease

See also: proteins, intermediates 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

Rhizomelic chondrodysplasia punctata

Contents

Types

Additional sources of information

External links

References