Skeletal dysplasia

Metaphyseal (Chondro) Dysplasia. Although metaphyseal changes often become undetectable and clinically insignificant over time, they may also progress and result in limb deformities, most commonly at the hips and the knees, or stress-fractures of the femoral necks.

Last modified
20 March 2021

3138-5 Body height Stated

62296-9 PhenX - self reported height protocol 020704


Q78.5 Metaphyseal dysplasia

Rare Condition

Shwachman Diamond Syndrome

Shwachman-Diamond syndrome is complex condition which affects different body functions.

The pancreas  produces less enzymes for the uptake of food. 

The bone marrow malfunctions and...

X Linked Hypophosphatemia

X-linked hypophosphatemia (XLH) is known as the most common hereditary metabolic rickets with a prevalence of 1:20,000- 60,000. Manifestations are bone deformities (particularly bowing of...

General Medical Guideline