Chondrodysplasia punctata

Medical condition

Chondrodysplasia punctata
Specialty	Medical genetics

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.^[1]^: 500^[2]^: 549

Types

Rhizomelic chondrodysplasia punctata 215100, 222765, 600121
X-linked recessive chondrodysplasia punctata 302950
Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant) 302960
Autosomal dominant chondrodysplasia punctata 118650

References

^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

External links

Classification	D ICD-10: Q77.3 MeSH: D002806 DiseasesDB: 32527

Osteochondrodysplasias

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