Rhizomelic chondrodysplasia punctata

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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 form of chondrodysplasia punctata which present with rhizomelia.

• Type 1 is associated with PEX7
• Type 2 is associated with DHAPAT
• Type 3 is associated with AGPS (gene)

[edit] See also

• Peroxisome

[edit] External links

• eNotes

v • d • e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q79, 754-756) Congenital limb deformities Upper limbs Cleidocranial dysostosis - Madelung's deformity - Sprengel's deformity - Wallis Zieff Goldblatt syndrome Lower limbs hip: Dislocation of hip/Hip dysplasia - Upington disease knee: Genu valgum - Genu varum feet: Club foot - Flat feet - Pes cavus Upper and/or lower limbs dactyly: Polydactyly/Syndactyly (Webbed toes) - Arachnodactyly - Cenani Lenz syndactylism reduction deficits: Acheiropodia - Amelia - Ectrodactyly - Phocomelia multiple joints: Arthrogryposis - Larsen syndrome Craniofacial abnormalities Macrocephaly - Platybasia Craniosynostosis: Scaphocephaly - Oxycephaly - Trigonocephaly Craniofacial dysostosis: Crouzon syndrome - Hypertelorism - Hallermann-Streiff syndrome - Treacher Collins syndrome Craniodiaphyseal dysplasia Dolichocephaly - Greig cephalopolysyndactyly syndrome - Plagiocephaly Other axial skeleton spine: spinal curvature (Scoliosis) - Klippel-Feil syndrome - Spondylolisthesis ribs: Cervical rib - Bifid rib sternum: Pectus excavatum - Pectus carinatum Osteochondrodysplasia development of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita collagen diseases: Osteogenesis imperfecta - Ehlers-Danlos syndrome other: McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia - Camurati-Engelmann disease Other abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) See also non-congenital conditions (M, 710-739)

v • d • e Peroxisomal disorders Zellweger spectrum Zellweger syndrome - Adrenoleukodystrophy (Adrenomyeloneuropathy) - Refsum's disease Other Acatalasia - Rhizomelic chondrodysplasia punctata - Mevalonic aciduria