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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
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Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756) |
| Limbs |
hip: 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 bones |
Craniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia |
| Spine and bony thorax |
Klippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib |
| Osteochondrodysplasia |
growth 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 |
| Other |
abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome |
| See also non-congenital conditions (M, 710-739) |
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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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