Murk Jansen metaphyseal chondrodysplasia is a highly uncommon autosomal dominant skeletal abnormality characterized by short-limbed low height caused by significant metaphyseal abnormalities frequently diagnosed in infancy. Consequently, afflicted people have extremely small legs, arms, and height, which generally manifests throughout infancy. Other bones in the body, notably those in the feet and hands, might be influenced by bone growth and abnormal cartilage. A mutation in the PTH1R gene causes Murk Jansen metaphyseal. A spontaneous mutation causes most instances, and heredity is autosomal dominant.

Furthermore, newborns with Murk Jansen metaphyseal chondrodysplasia might have distinctive facial deformities as well as various skeletal anomalies. Children who are affected might display gradual rigidity and inflammation of multiple joints, as well as an odd waddling gait and crouching posture. Affected people may also ultimately acquire unusually hardened bones, particularly in the back of the skull, resulting in blindness and hearing loss in certain circumstances.


Murk Jansen metaphyseal chondrodysplasia can exhibit the following symptoms, especially during childhood.

  • Waddling gait
  • Thick skull base  
  • Short ribs
  • Long, short bone
  • Extreme short stature  
  • Proptosis
  • Notable supraorbital arches in adults  
  • Pathologic fracture 
  • Osteopenia  
  • Nephrocalcinosis
  • Misalignment of teeth  
  • Micrognathia
  • Metaphyseal cupping
  • Metaphyseal chondrodysplasia
  • Knee flexion contracture
  • Hypophosphatemia
  • Hypoparathyroidism
  • Hypertelorism
  • Hyperphosphaturia
  • Hypercalciuria
  • Hypercalcemia
  • Hip contracture
  • Hearing problem
  • Elevated alkaline phosphatase  
  • Clubbing of fingers
  • Clinodactyly of the 5th finger  
  • Choanal stenosis  
  • Choanal atresia
  • Brachycephaly
  • Bowing of the long bones


Physical traits and symptoms are used to make a diagnosis of Murk Jansen metaphyseal chondrodysplasia, which is usually done throughout infancy or early childhood.

  • Postnatal development of extremely low stature with joint problems elicited clinically. 
  • The radiologic signals change with age, displaying diffused radiolucency at conception, uneven calcification in youth, and bulbous deformities of the long bone extremity.
  • X-rays might indicate aberrant growth of the bulbous ends of the leg bones’ metaphyses. 
  • Diagnostic tests for hypercalcemia and hypercalciuria are also helpful.


There is no recognized therapy or treatment for Murk Jansen metaphyseal, while several researchers have attempted to reduce hypercalcemia using different kinds of bisphosphonates.

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