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Rhizomelic chondrodysplasia punctata



Rhizomelic chondrodysplasia punctata
Classification & 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)

See also


v • d • e
Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)
Limbship: Dislocation of hip/Hip dysplasia

feet (Club foot, Flat feet, Pes cavus)

head, face, spine and chest: skull, face and jaw (Dolichocephaly, Plagiocephaly) - Scoliosis - chest (Pectus excavatum, Pectus carinatum)

Polydactyly/Syndactyly (Webbed toes)

reduction deficits (Ectrodactyly, Amelia, Phocomelia)

upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity)

knee (Genu valgum, Genu varum)

Arthrogryposis
Skull and face bonesCraniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia
Spine and bony thoraxKlippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib
Osteochondrodysplasiagrowth of tubular bones and spine: Achondrogenesis - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Spondyloepiphyseal dysplasia congenita
Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy
Otherabdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also non-congenital conditions (M, 710-739)


v • d • e
Peroxisomal disorders
Acatalasia - Adrenoleukodystrophy - Refsum's disease - Rhizomelic chondrodysplasia punctata - Zellweger syndrome
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Rhizomelic_chondrodysplasia_punctata". A list of authors is available in Wikipedia.
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