Dwarfism: All you need to know

Dwarfism is a condition in which an individual is short-statured because of genes or medical reasons. Adults of 4 feet 10 inches or up to 5 feet height suffer from dwarfism as per varying medical standards. 

In general, an adult with a height up to 4 feet on average is considered a dwarf.  

Dwarfism is a complicated condition involving the back, limbs, while the head size can lead to issues such as breathing difficulties, arthritis, club foot, bowed legs, spine-related issues, crowded teeth, delay in the development of motor skills, sleep apnea, hearing impairment, eye problems, and many more.

Dr. Ratnav Ratan, a leading pediatric orthopedic surgeon in Delhi, explains dwarfism and its management. Suitable corrective surgeries for clubfoot, bowed legs, limb lengthening procedures, and other corrective procedures done during the early stages can improve the lives of such children as it is detected in utero, at birth, or during the growth phase. Hence, it is essential to have a comprehensive recovery plan as an experienced pediatric orthopedic suggests.

Types of Dwarfism

There are nearly 400 types of dwarfism. The most common type is skeletal dysplasias; this type of disproportionate dwarfism is a genetic disorder accompanied by abnormal bone growth. Hence it is a type of disproportionate dwarfism.

Proportionate dwarfism is caused due to metabolic and hormonal disorders, mainly due to a deficit of growth hormones.

The two main types of dwarfism viz. Proportionate dwarfism and Disproportionate dwarfism

Characteristics of Proportionate dwarfism

An individual with

• Short body parts that are proportionate in size

Symptoms of Proportionate dwarfism 

• Individuals with Proportionate dwarfism have –
• A smaller head, arms, and legs in proportionate size
• Also, organ systems may be smaller in size too.
• Their growth rate is slower when compared to their age
• Height is substantially lower than the third percentile on standard charts for age
• No sexual development or it is delayed during the teenage phase

Causes of Proportionate dwarfism include a medical condition at birth or develops during the growing years and hampers growth and development. One of the primary reasons is extremely less amounts of growth hormones produced by the pituitary gland. 

Characteristics of Disproportionate dwarfism

An individual with

• An average-size torso, shorter arms, and legs
• A shortened trunk with longer limbs

Symptoms of Disproportionate dwarfism

Along with short stature, other symptoms are

• Individuals with a height of just about 4 feet
• Torsos is average in size with short upper halves of arms and legs
• Short fingers with wide spaces between the middle and ring fingers
• Elbow mobility is limited
• The head is disproportionately large with a prominent forehead
• The bridge of the nose is flattened
• Progressive worsening of Bowing of legs condition
• Progressive worsening of Swaying of the back

Individuals with disproportionate dwarfism, hydrocephalus, excess fluid around the brain, or other rare conditions are intellectually affected. Spondyloepiphyseal dysplasia congenital (SEDC) is a condition seen in patients with disproportionate dwarfism. The individuals with SEDC are up to 3 to 4 feet tall. 

The other symptoms are –

• Vision and/or hearing impairment

• Short trunk with a broad chest

• Short neck, arms, and legs with hands and feet of average size

• Flattened cheekbones

• Opening in the roof of the mouth and/or a cleft palate

• Unstable neck bones

• Hunched upper back and/or swayed lower back that is likely to worsen progressively

• Deformed hips where the thigh bones turn inward

• Twisted feet

• Arthritis and Joint mobility problems

Causes of Dwarfism

Achondroplasia –

Individuals with achondroplasia have long trunk with short upper limbs of their arms and legs accompanied by the following facial features

• Large head and a prominent forehead
• Flat bridge of the nose
• Misaligned and crowded teeth with a protruding jaw
• Forward curvature of the lower spine
• Bowed legs with flat, short, broad feet
• “Double-jointedness”

Achondroplasia is one of the most common forms of dwarfism and is evident at birth. It accounts for nearly 70% of dwarfism cases.

Spondyloepiphyseal dysplasias (SED)

It is a relatively less common form of dwarfism that occurs in one out of 95,000 babies.

Characteristics of individuals with Spondyloepiphyseal dysplasia

• Shortened trunk, gains prominent when the child is between 5 – 10 years of age
• Barrel-chested appearance
• Cleft palate
• Weak hands and feet
• Hips affected with severe osteoarthritis
• Clubfeet

Diastrophic dysplasia

It is a relatively rare form of dwarfism ( 1 out of 100,000 births). Diastrophic dysplasia is also known as mesomelic shortening.

Characteristics of individuals with Diastrophic dysplasia

• Shortened forearms and calves
• Cleft palate
• Ears with a cauliflower appearance
• Deformed hands and feet
• Limited range of motion

Turner syndrome

Turner syndrome is a genetic condition detected in females as they have one missing or a partial X chromosome. In addition, they inherit one fully functioning X chromosome from their parent rather than receiving one each from both the parents.  

Diagnosis of Dwarfism

There are various ways of identifying dwarfism –

Some types of dwarfism are detected through x-rays and physical examination, while some are evident in utero or at birth or infancy stage. Genetic testing is useful in detecting achondroplasia, diastrophic dysplasia, or spondyloepiphyseal dysplasia. If required, the doctor recommends prenatal testing in case of specific conditions.  

Later stage diagnosis for dwarfism is essential during the child’s growing years if the child develops 

• A large head
• Slow development of sitting up or walking or other motor skills
• Issues in breathing
• Crowding of teeth
• Curvature of the spine
• Arthritis and Joint stiffness
• Lower back pain accompanied by numbness in the legs
• Bowed legs

Other significant diagnosing tools and methods include –

Appearance – Visible changes in the facial or skeleton structure as they grow

Comparative Charts – Regular measurement and checkups of height, weight, and head circumference and comparing them with percentiles for standard development for their age. If abnormal measurements are detected, the child needs frequent checkups and measurements.

Imaging – It is possible to detect shorter limbs or any other signs of dwarfism through an ultrasound of the fetus during the pregnancy. Also, it is possible to view discrepancies in the growth of arms and/or legs or for visible signs of dysplasia. 

It is possible for MRI scans to reveal abnormal conditions of the hypothalamus or pituitary gland and can affect hormone production.

Genetic tests – DNA tests help parents to go ahead with more children. Before or after birth, these tests are recommended to ascertain gene mutations associated with dwarfism. In addition, DNA tests for girls suspected of Turner Syndrome are necessary to check their X chromosomes.

Family history – A child with suspected dwarfism requires regular visits to the pediatrician to check the height and size in comparison with other siblings and family members.

 Hormone tests – These tests detect the levels of growth hormone, low levels of growth hormones are a cause of worry.

Treatments for Dwarfism

It is noted that early diagnosis and treatment can resolve issues related to dwarfism. Growth hormone treatment is prescribed for individuals detected with growth hormone deficiency. Select FDA- approved medicines are prescribed for children after five years of age and above suffering from achondroplasia.

Patients with dwarfism need special orthopedic treatments, which include –

– Corrective surgeries for club foot and/or bowed legs conditions

– Extended limb lengthening surgery – multiple procedure surgeries performed on adults

– Surgery to relieve the spinal cord compression by widening the spinal canal

Other surgical procedures include

• A tracheotomy for improved breathing
• Surgery to correct deformities of the cleft palate
• Tonsil removal surgery to improvise the breathing experience
• Shunt insertion to drain excess fluid and relieve pressure

Other rehabilitation treatment options include

• Back braces
• Physical therapy to strengthen muscles and increase joint range of motion
• Back braces to improve the curvature of the spine
• Prevent repeated ear infections by placing drainage tubes in the middle ear
• Orthodontic dental treatment to resolve the crowding of teeth
• Diet and nutritional counseling to maintain optimum weight and bone health

Dr. Ratnav Ratan, pediatric orthopedic in Delhi, strongly suggests parents of children detected with dwarfism should seek timely treatment for dwarfism so that they are better armed to overcome their shortcomings, able to accomplish most of their tasks and feel more confident of themselves too.

Dwarfism Genetics

Skeletal dysplasia is caused by a genetic mutation. The gene mutation can occur spontaneously or can be inherited.

Diastrophic dysplasia and usually spondyloepiphyseal dysplasias are inherited in a recessive manner. This means a child must receive two copies of the mutated gene — one from the mother, one from the father — to be affected.

Achondroplasia, on the other hand, is inherited in a dominant manner. That means a child needs only one copy of the mutated gene to have that form of skeletal dysplasia. There is a 25% chance that a child born to a couple in which both parents have achondroplasia will be of normal height. But there is also a 25% chance the child will inherit both dwarfism genes, a condition known as double-dominant syndrome. This is a fatal condition that usually results in miscarriage.

Often parents of children with achondroplasia do not carry the mutated gene themselves. The mutation in the child occurs spontaneously at the time of conception.

Doctors do not know what causes a gene to mutate. It is a seemingly random occurrence that can happen in any pregnancy. When average-size parents have a child with dwarfism due to a spontaneous mutation, it is not likely that other children will also have the mutation.

In addition to genetic skeletal dysplasia, short stature has other causes, including disorders of the pituitary, which influence growth and metabolism; kidney disease; and problems that affect the body’s ability to absorb nutrients.

Dwarfism is a complicated condition involving the back, limbs, while the head size can lead to issues such as breathing difficulties, arthritis,  bowed legs, spine-related issues, crowded teeth,  delay in development of motor skills, sleep apnea, hearing impairment,  eye problems, and many more. 

Dr.Ratnav states that suitable orthopedic treatment done during the early stages can improve the lives of such children since it is detected in utero, at birth or during the growth phase. Hence, seeking treatment of an experienced pediatric orthopedic is utmost essential in such cases. 

Disproportionate dwarfism causes changes to the limbs, back, and head size that could cause complications like these:

• Arthritis
• Back pain or breathing difficulties due to hunched or swayed back
• Bowed legs
• Crowded teeth
• Delayed motor skills development
• Frequent ear infections and possibly hearing loss
• Hydrocephalus (fluid on the brain)
• Pressure on the spine at the base of the skull
• Sleep apnea
• Spinal stenosis, a narrowing of the spine that may cause leg pain or numbness
• Weight gain that may cause back problems

Proportionate dwarfism may cause you to have smaller or less developed organs. Girls with Turner syndrome may have heart problems. Kids with lower growth hormone levels or Turner syndrome may have emotional or social problems due to delays in sexual development.

Women with disproportionate dwarfism may have pregnancy complications, such as respiratory problems. They almost always need to deliver their babies by C-section, as the shape of their pelvis makes vaginal delivery too difficult.

Anyone with dwarfism may encounter people who call them names or don’t understand their condition. Kids with dwarfism who have lower self-esteem may need emotional support from their parents to deal with their feelings.