Short Stature
Short stature may have many different causes such as Endocrine disorders, Metabolic disease and Bone diseases: skeletal dysplasias (a heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head). Metaphyseal (Chondro) Dysplasias are a type of skeletal disorders in which there is abnormal bone formation at the end of the long bones (metaphysis). This may be a feature of:
- Shwachman Diamond Syndrome
- Cartilage Hair Hypoplasia
- Metaphyseal Chondrodysplasia Schmid type
Last modified
28 July 2019
Symptom
Metaphyseal (Chondro) Dysplasia in SDS is characterised by short stature, delayed appearance but subsequent normal development of secondary ossification centres. And by variable metaphyseal widening...
Stunted growth may be the revealing symptom in de novo XLH children; noteworthy, growth velocity is always poor at the time of diagnosis in those...
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...
