Causes of Short Stature
Growth hormone deficiency:
Growth hormone is essential for growth and development. It stimulates the growth of all body parts, especially bones. If your child is not producing enough growth hormone, they won’t grow as tall as their peers. They may even look like a younger child than their age. Other signs of GHD include coarse facial features such as a large nose, a long face, and protruding jaw.
Hypothyroidism:
The thyroid gland is located in the front of the neck below your Adam’s apple. It produces hormones that are needed for average growth and development. Hypothyroidism is when the thyroid gland doesn’t have enough of these hormones. An underactive thyroid can cause a delay in growth and slow bone maturation, resulting in short stature.
Prader-Willi syndrome:
Prader-Willi Syndrome is a genetic disorder that causes weak muscles, feeding problems, poor growth, and development of the sexual organs. Children with the syndrome are often short for their age and have small hands and feet. Sometimes their growth slows or stops between the ages of 2 and 6.
Turner syndrome:
Girls with this genetic disorder are usually shorter than other girls their age. Other symptoms may include problems with the kidneys, heart, hearing, and vision, leading to early menopause. The most common chromosomal abnormality in females is Turner syndrome (TS). TS affects only girls and occurs in one out of every 2,000 to 2,500 females.
Spondyloepiphyseal dysplasia: This disorder speeds up the normal process of bone aging, which can cause bones to become weak and fracture easily. It also causes short stature. The most common type is called type II.
Cerebral Palsy:
Cerebral palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. CP can result from brain damage that occurs before, during, or soon after birth; from damage during infancy or childhood due to an illness, malnutrition, unsafe conditions; or complications during brain surgery.
Fragile X syndrome:
Fragile X is the most common inherited mental impairment and the leading cause of autism. It also causes short stature in some cases.
Turner’s Syndrome:
Turner’s syndrome is a genetic condition that only affects girls and results when one of the two X chromosomes that generally develop into a female is missing or incomplete.
The effects of Turner’s syndrome on the growing body are often subtle and variable. Still, they can include shorter height than expected for age, late puberty onset (which may result in early menopause), unusual proportions of the neck with a larger-than-normal space between the collarbone and neck, low muscle tone (hypotonia), and a greater than average distance between the two inner ears (it can cause problems with hearing).
Cri du chat:
A rare condition that results from a genetic change in an early embryo. The altered gene disrupts the normal development of the lower part of the face and decreases muscle tone, resulting in developmental delays. It is also linked to low muscle tone (hypotonia). These problems can cause breathing problems, sleeping difficulties, and delays in growth.
short stature causes:
1. Growth hormone deficiency (pituitary dwarfism)
2. IGF-I deficiency (somatomedin C deficiency/Laron Syndrome)
3. Turner syndrome (XO or monosomy X)
4. Chronic illness (e.g., renal, cardiac, lung disease)
5. Chromosomal abnormalities (e.g., Turner’s syndrome, Down’s syndrome, Noonan’s Syndrome)
6. Iatrogenic (treatment by neglect)
7. Nutritional deficiency
8. Familial short stature
9. Psychosocial Dwarfism
10. Genetic Diseases
Endocrine causes of short stature:
1. Growth Hormone deficiency
2. Turner Syndrome (monosomy X)
3. Noonan syndrome
4. Down syndrome
5. Iatrogenic (treatment by neglect)
6. Chronic renal failure
7. intrinsic short stature or short familial stature
8. Familial GH resistance, receptor, or post-receptor defect
9. Chromosomal abnormalities (e.g., Turner’s syndrome, Noonan’s Syndrome)
10. Genetic Diseases causing short stature
11. Intrauterine growth retardation (limited fetal growth due to environmental factors)
12. Chronic illness (e.g., renal, cardiac, lung disease)
somatotrophin (growth hormone or GH) deficiency:
Somatotrophin (GH) is a 191-amino acid protein secreted by the anterior pituitary gland in response to a hypothalamic hormone called GHRH (growth hormone-releasing hormone). It is composed of two alpha and two beta chains.
Deficient secretion of GH causes the growth plates and the liver to stop growing at a certain height. This results in short stature. Treatment with recombinant human GH (rhGH) has improved the final measurement by 2-3 SDS in all patients who received treatment, especially those treated during their first 3 yr of life.
Idiopathic short stature treatment:
Short stature or shortness of stature is when an individual fails to attain their predicted adult height either due to poor growth in childhood or regular birth length but continuing growth failure.
Idiopathic short stature children:
1. Short Stature with Intrauterine Growth Retardation (SGI)
2. Constitutional Delay of Growth and Puberty (CDGP)
3. Familial Short Stature
4. Hypogonadotropic hypogonadism
5. Sprengel’s deformity, Poland syndrome
Disproportionate short stature causes:
1. Achondroplasia
2. Chondrodysplasis
3. Morquio syndrome
4. Spinal Dysraphism sequence (e.g., agenesis of the corpus callosum, lipoma of the cauda equina)
5. Dwarfism with emphasis on long tubular bones (e.g., Thanatophoric dysplasia, Diastrophic dysplasia)
6. Short Stature with Intrauterine Growth Retardation (SGI)
7. Constitutional Delay of Growth and Puberty (CDGP)
8. Familial Short Stature
9. Hypogonadotropic hypogonadism
10. Sprengel’s deformity, Poland syndrome
syndromes with short stature:
1. Achondroplasia
2. Chondrodysplasis
3. Morquio syndrome
4. Spinal Dysraphism sequence (e.g., agenesis of the corpus callosum, lipoma of the cauda equina)
5. Dwarfism with emphasis on long tubular bones (e.g., Thanatophoric dysplasia, Diastrophic dysplasia)
6. Sprengel’s deformity, Poland syndrome
7. Short Stature with Intrauterine Growth Retardation (SGI)
8. Constitutional Delay of Growth and Puberty (CDGP)
9. Familial Short Stature
10. Hypogonadotropic hypogonadism
11. Genetic Disorders causing short stature (e.g., Turner’s syndrome, Noonan’s Syndrome)
12. Intrauterine growth retardation (limited fetal growth due to environmental factors)
13. Chronic illness (e.g., renal, cardiac, lung disease)
14. Nutritional deficiency
Growth hormone therapy:
1. Growth Hormone Deficiency (GHD or GHD)
2. Turner Syndrome (Monosomy X)
3. Noonan Syndrome
4. Down syndrome
5. Iatrogenic (treatment by neglect)
6. Chronic renal failure
7. Intrinsic short stature or short familial stature
8. Familial GH resistance, receptor, or post-receptor defect
9. Chromosomal abnormalities (e.g., Turner’s syndrome, Noonan’s Syndrome)
10. Genetic Diseases causing short stature
11. Intrauterine growth retardation (limited fetal growth due to environmental factors)
12. Chronic illness (e.g., renal, cardiac, lung disease)
familial vs. constitutional short stature:
Familial short stature (FSS) is caused by dysmorphic syndromes such as neurofibromatosis, Turner syndrome, Noonan syndrome, and cardio-pulmonary abnormalities. It may also be the result of a single gene mutation with variable expression.
Constitutional short stature (CSS) is more common and results from stress, nutritional deprivation, or other unknown factors. Both syndromes are defined by average growth velocity and lack of GH deficiency.
less than 2% of cases:
1. Achondroplasia
2. Chondrodysplasia (Dwarfism with emphasis on long tubular bones)
3. Morquio syndrome
4. Spinal Dysraphism sequence (e.g., agenesis of the corpus callosum, lipoma of the cauda equina)
5. Dwarfism with emphasis on long tubular bones (e.g., Thanatophoric dysplasia, Diastrophic dysplasia)
6. Sprengel’s deformity, Poland syndrome
7. Short Stature with Intrauterine Growth Retardation (SGI)
8. Constitutional Delay of Growth and Puberty (CDGP)
9. Familial Short Stature
10. Hypogonadotropic hypogonadism
11. Genetic Disorders causing short stature (e.g., Turner’s syndrome, Noonan’s Syndrome)
12. Intrauterine growth retardation (limited fetal growth due to environmental factors)
13. Chronic illness (e.g., renal, cardiac, lung disease)
14. Nutritional deficiency
15. Genetic Diseases causing short stature
16. Intrauterine growth retardation (limited fetal growth due to environmental factors)
17. Chronic illness (e.g., renal, cardiac, lung disease)