Diagnostic Tests for Short stature
Diagnostic Test list for Short stature:
The list of diagnostic tests
mentioned in various sources as
used in the diagnosis of Short stature
- General appearance and observation
- Looking for any dysmorphic ( abnormality of shape) features of face and body that may suggest the cause of the short stature - e.g. Down syndrome, Noonan syndrome, Prader-Willi syndrome, Cornelia de Lange syndrome, Rubinstein-Taybi syndrome.
- Determine if the body parts are in proportion - The appearance of the long bones, spine, pelvis and skull help enable diagnosis of the cause of short stature. e.g. Turner syndrome and Noonan syndrome have short stature with normal body proportions; Achondroplasia (dwarfism) have short stature with disproportionately short limbs, relatively large head, small face, narrow nasal passages, forward projection of the jaw bone, exaggerated curvature of the lumbar spine, short fingers.
- Physical examination
- Measure height, weight and head circumference. There is no clear demarcation between normal and short stature. As a general rule, any child whose height falls below the 3rd centile should be considered short. However occasionally a child whose height is above the 3rd centile may be considered short in relation to the family average height pattern
- A careful physical examination must be performed to exclude any acute or chronic illness
- Examine for signs of congenital heart disease that may cause failure to thrive due to poor feeding and short stature
- Assess pubertal development
- Observe infant health clinic booklet - to check growth patterns of weight, height and head circumference.
- Blood tests
- Full blood count and ESR
- Electrolytes, calcium, renal function tests
- Blood sugar level
- Liver function tests
- Thyroid function tests
- Cytogenetics for karyotyping - e.g. looking for genetic syndromes e.g. Down's syndrome, Turner's syndrome, Fanconi anaemia.
- Growth hormone level
- Overnight Dexamethasone suppression test if suspect Cushing's syndrome
- Urine tests
- Urine metabolic screening in children if suspect metabolic and storage diseases
- 24 hour Urinary free cortisol measurement
- Stool examination - quantitative fat analysis if suspect malabsorption.
- Sweat test - if suspect cystic fibrosis.
- Radiological investigations
- CT scan or MRI brain may sometimes be useful
- Chest X-Ray and Echocardiogram, if suspect congenital heart disease
- Skeletal survey, if suspect dwarfism
- Bone age studies may be indicated to determine the child's final height
- Electrocardiogram (ECG) - if suspect congenital heart disease.
- Denver developmental screening test in children - compares all aspects of a child's development with a population of normal children at the same age.
- Biopsy of small bowel - if suspect Coeliac disease.
Home Diagnostic Testing
These home medical tests may be relevant to Short stature causes:
- Child Behavior: Home Testing
- Child General Health: Home Testing
- Cold & Flu: Home Testing:
Conditions listing medical symptoms: Short stature:
The following list of conditions
have 'Short stature' or similar
listed as a symptom in our database.
This computer-generated list may be inaccurate or incomplete.
Always seek prompt professional medical advice about the cause
of any symptom.
Select from the following alphabetical view of conditions which
include a symptom of Short stature or choose View All.
Conditions listing medical complications: Short stature:
The following list of medical conditions have 'Short stature'
or similar listed as a medical complication in our database.
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