Metaphyseal Chondrodysplasia with cone-Shaped Epiphyses, Normal Hair, and Normal Hands

Alternative Names

Cupped Metaphyses and Cone-Shaped Epiphyses without Alopecia or Brachydactyly

Back to search Result

WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

609989

Mode of Inheritance

Unknown

Description

Metaphyseal Chondrodysplasia with cone-Shaped Epiphyses, Normal Hair, and Normal Hands is an extremely rare condition, characterized by a characteristic metaphyseal chondrodysplasia with cup-shaped metaphyses of the knees. The molecular genetic etiology for this condition is not known.

Epidemiology in the Arab World

View Map

Lebanon

Other Reports

Lebanon

Kozlowski et al. (1995) described a lebanese boy with short stature, limitation of joint movements, and radiographic knee abnormalities born to healthy non-consanguienous parents. The patient had, in addition, slight coning of the right distal radial epiphysis.

Contributors

Pratibha Nair: 19.03.2020

Edit History

Pratibha Nair: 19.03.2020