Metaphyseal chondrodysplasia Jansen type

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 ]

Metaphyseal dysplasia Jansen type
OrphaNet reference
Metaphyseal chondrodysplasia, Jansen type 
Is A
Metaphyseal chondrodysplasia
May Cause
Absent clavicle
Absent paranasal sinus
Altered calcium concentration
Altered phosphorus concentration
Atlantoaxial instability
Basilar invagination
Bowed bones
Bowed tubular bones
Broad tubular bones
Choanal atresia
Choanal stenosis
Clavicle dysplasia
Clavicle hypoplasia
Cone-shaped epiphysis
Congenital generalized osteoporosis
Congenital premature craniosynostosis
Congenital short limbs
Congenital skull defect
Congenital vertebral abnormality
Congenitally limited joint mobility
Defective cranial ossification
Defective pubic ossification
Diffusely dense skull base
Disrupted epiphyseal-metaphyseal junction
Flaring of ribs
Generalized large epiphyses
Generalized wide epiphyseal plate
Genu varum
Hypoplastic paranasal sinus
Indistinct epiphyses
Indistinct frayed metaphyses
Large epiphysis
Late-onset dwarfism
Limited joint mobility
Medullary nephrocalcinosis
Metaphyseal cupping
Metaphyseal fragmentation
Metaphyseal irregularity
Metaphyseal sclerosis
Metaphyseal spur
Multiple fractures
Multiple sclerotic foci in an infant or child
Pathologic fracture
Ribbon-like ribs
Short and broad distal phalanges of hand
Short narrow thoracic cage
Short ribs
Short squat bones
Skull base hypoplasia
Subperiosteal bone resorption
Symmetrical anterior rib flaring
Thin ribs
Tibiotalar tilt
Type B pelvis
Wavy ribs
Wide diametaphysis
Wide metaphysis
Wide pubic symphysis
Wide sutures
Wormian bones
Metaphyseal dysplasia Jansen type