Gamuts

Metaphyseal chondrodysplasia

Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 (PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide. [Source: Wikipedia ]

Subtypes
Metaphyseal chondrodysplasia Jansen type
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Shwachman type
May Cause
Bowed bones
Cone-shaped epiphysis
Congenitally limited joint mobility
Coxa valga
Coxa vara
Deafness
Dense vertical metaphyseal lines
Epiphyseal necrosis
Flaring of ribs
Genu valgum
Genu varum
Indistinct frayed metaphyses
Irregular epiphysis
Mesomelic limb shortness
Metaphyseal cupping
Metaphyseal irregularity
Metaphyseal sclerosis
Multiple abnormal epiphyses
Nail aplasia
Nail deformity
Nail dystrophy
Nail hypoplasia
Sclerotic epiphysis
Short foot
Short hand
Slipped capital femoral epiphysis
Thin ribs
Thoracic dysplasia
Tibiotalar tilt
Transverse dense metaphyseal bands
Type A pelvis
Type B pelvis
Wavy ribs
May Be Caused by
Leukoencephalopathy - metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia - retinitis pigmentosa

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
ALL RIGHTS RESERVED
About "Gamuts"

Quiz