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
LOINC
3138-5 Body height Stated
62296-9 PhenX - self reported height protocol 020704
ICD
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...
Disability
General Medical Guideline
