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Disorders of Short Stature

Disorders of Growth
Human Growth Hormone (HGH) Deficiency
Cushing’s Syndrome (Cortisol, Stress,Hormone Excess)
Hypothyroidism
Nutritional Short Stature
Intrauterine Growth Retardation (“IUGR”)
Russell-Silver Syndrome
Disproportionate Short Stature
Achondroplasia
Growth Related Disorders
Poor Nutrition and Systemic Diseases
Bone Disorders
XLH (X-Linked Hypophosphatemia)

 

What Are Growth Disorders (top)
There are many causes of growth failure in children. Some are constitutional, some are genetic, and some are the result of hormonal disorders. In some cases the growth disorder may be recognized at birth; in others, a parent may be concerned that the child is the shortest in the class, still wearing the same size clothing as last year, and growing less than two inches a year. In these cases, a thorough medical evaluation by a pediatric endocrinologist (or other growth specialist) is necessary to determine if there is a growth disorder affecting the child’s development.

Human Growth Hormone (rhGH) Deficiency (top)
HGH deficiency may occur at any time during infancy or childhood, with the most obvious sign being a noticeable slowing of growth. The deficiency may be genetic is some families. Although these children may also possess signs of low blood sugar or obesity, they display average body proportions and (average intelligence. Through the use of injections of synthetic HGF over a period of several years, physicians can help these children deficient in HGH to achieve average height.

Cushing’s Syndrome (Cortisol, Stress, Hormone Excess) (top)
This very rare disorder, caused by too much cortisol (an adrenal gland hormone) in the system, is characterized by an increase in body weight while height remains constant. Side effects may include easy bruising, thinning of the skin, softening of the bones, muscular atrophy (wasting) and general body weakness. A blood test is used to determine the amount of cortisol in the blood.

Hypothyroidism (top)
Growth retardation, sluggish behavior, tongue enlargement, facial changes, thickened and puffy face and skin and a wide variety of neurological abnormalities are manifestations of low function of the thyroid gland. Depending on the age when this underaction (hypothyroidism) begins, the signs and symptoms can have wide variation. Characteristics X-ray changes in the skeleton and a low-blood thyroid level establish the diagnosis. Most states screen for this at birth. However, this problem can develop later.

Nutritional Short Stature (top)
Malnutrition on a constant basis prevents children from reaching their full growth potential. The body becomes weak and frail and usually shows signs that muscle or bone tissue is wasting. Malnutrition is the most common cause of growth failure around the world, primarily due to lack of protein and other basic nutrients ion the diet. A well balanced diet will help prevent or overcome this disorder.

Intrauterine Growth Retardation (“IUGR”) (top)
A disorder which occurs while the baby is still in the mother’s womb. IUGR produces full-term babies unusually small in weight and/or length at birth. They are proportionately short statured.

Russell Silver Syndrome (top)
In this condition, short stature begins in the womb with the children typically developing asymmetry of their extremities, especially leg length discrepancy. Cranio-facial features include small face and relatively large head, with the facial features ordered in a triangular configuration. The corners of the mouth tend to be downturned. The fifth fingers are usually very short and incurved, and there may be mild webbing of the soft tissue of the second and third toes. During the first year of life there may be a tendency to episodes of low blood sugar (hypoglycemia). Kidney malformations are frequent.

Disproportionate Short Stature (top)
Disproportionate short stature, commonly referred to as dwarfism, can manifest itself as short-limbed dwarfism or short-trunk dwarfism. The growth retardation results primarily from impaired growth of bone and cartilage. These types are usually not HGH deficient.

Achondroplasia (top)
The most common form of disproportionate growth retardation, achondroplasia is recognizable at birth and after the 24th week of gestation using ultrasound. Characteristics include:

  • A moderately enlarged head
  • Average height and size trunk
  • Short limbs
  • Underdevelopment of the mid-third of the face so that the nasal bridge is relatively low or flat
  • Short fingers with excessive separation of the fingertips, especially the third and fourth fingers

For more information regarding Achondroplasia contact Little People of America

Growth Related Disorders (top)
Most short children do not have a serious growth problem. Many grow at a normal rate and reach an adult height that is about the same as their parents. A child’s rate of growth is an important clue to the presence or absence of a growth problem: A child who is growing at a slower than normal rate may have a serious problem, regardless of his or her height. There are many conditions and diseases that can cause poor growth and this page give facts about several of them.

Poor Nutrition and Systemic Diseases (top)
There are many diseases and disorders that can cause short stature and growth failure. Nutritional deficiencies will cause poor growth eventually – a balanced diet with adequate calories and protein is essential for growth. There are a number of intestinal disorders which may lead to poor absorption of food. Failure to absorb nutrients and energy from food then leads to growth failure. Children with these conditions may have complaints that involve the stomach or intestines (bowels) and may have bowel movements that are unusual in pattern, appearance and odor. Deficiency of these conditions often involves a special diet. Normal growth usually resumes after the condition has been treated.

Diseases of the kidneys, lungs and heart may lead to growth failure as a result of inadequate intake of nutrients or buildup of waste products and undesirable substances in the body. Children with diabetes, or “high sugar,” may grow slowly, particularly when their blood sugar is not kept near the normal range.

Any disease that is severe, untreated or poorly controlled can have an adverse effect on growth. Severe stress or emotional trauma can also cause growth failure.

Bone Disorders (top)
One form of extreme short stature is caused by abnormal formation and growth of cartilage and bone. Children with a skeletal dysplasia, or chondrodystrophy, are short and have abnormal body proportions; intelligence is normal. Some chondrodystrophies are inherited, others are not. The underlying causes of most of these skeletal dysplasias are not known, although researchers are working to identify the genetic and biochemical mechanisms that are involved. The chances of parent shaving a second child with the same problem cannot be estimated until the specific type of skeletal dysplasia is identified from physical examination and bone x-rays. The HGF booklet, “Achondroplasia,” provides more information about a common form of this group of bone disorders.