The Main Types and Symptoms of Dwarfism

Dwarfism is a condition in which a person remains of short stature in comparison to other average-sized people of their age due to some genetic or medical disorder. If an adult person has less than 147 cm, they are suffering from dwarfism. There are mainly two types of dwarfism:

Proportionate Dwarfism: When a person has smaller legs, arms, and head than other people, but all of these body parts are in proportion to each other, then the person is suffering from proportionate dwarfism. The organ system in people suffering from proportionate dwarfism can also be smaller.

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Disproportionate Dwarfism: As the name suggests, a person suffers from disproportionate dwarfism if they have short body parts that are not proportionate to each other. One of the most common examples of disproportionate dwarfism is a person suffering from achondroplasia.

The symptoms vary in proportionate and disproportionate dwarfism. Major symptoms of proportionate dwarfism include lack of sexual development in teen years, slow growth rate compared to others of the same age, lower height than 3rd percentile in standard age charts. In disproportionate dwarfism, the most prominent symptoms include small fingers, restricted elbow mobility, flat nose bridge, bowed legs, back swaying, large space in between ring finger, and middle finger. In addition to these, the size of the torso as well as limbs remains short. Also, the average height of a person suffering from disproportionate dwarfism is around 4 feet.

Genetics, Causes, and Signs of Dwarfism
Dwarfism is caused mainly due to some genetic disorders, but the reason behind several disorders remains unknown. In the majority of the cases, dwarfism is a result of some random mutation of the gene, which can happen either in the sperm of the father or egg of the mother, instead of the whole genetic makeup of a parent. Dwarfism usually happens as a result of two major kinds of genetic disorders – recessive and dominant. In the dominant type, a person only needs to have one parent having dwarfism. It is caused by a specific version of a gene known as fibroblast growth factor receptor 3 (FGFR3). The recessive type of dwarfism can be passed over future generations after remaining dormant in the present generation. The major causes of these conditions are as follows:

Diastrophic dysplasia: Diastrophic dysplasia is usually inherited in a recessive manner and affects cartilage. This means that, for a child to be infected, they must receive dual copies of mutated genes. One of these comes from the mother and the other comes from the father. Major signs of diastrophic dysplasia include hernia, foot deformities, cauliflower ear, hip dysplasia, shortening of limbs, and lumbar lordosis.

Achondroplasia: Contrary to diastrophic dysplasia, achondroplasia gets inherited in dominance. This means that, for a child to suffer from this form of skeletal dysplasia, they need just a single copy of the mutated gene. One out of every four kids whose both parents have achondroplasia has a chance of acquiring average height. Also, there is a chance that a kid gets both the dwarfism genes of their parents. This condition can prove to be fatal and mainly results in miscarriage. Major signs of achondroplasia include hunched back, snoring, misaligned teeth, ear infections, and an enlarged head.

Turner syndrome: This condition affects only females. It happens when one of the X chromosomes is partially or completely missing. A wide range of developmental and medical problems are caused by it. Some of the most common problems include failure in ovary development and heart defects. Major signs include a web-like neck, narrow and high mouth roof, low set ears, small or receding jaw, and slowed growth.

Skeletal dysplasia: This includes a wide range of disorders characterized by abnormal bone and cartilage growth, abnormal skeleton size and shape, the disproportion in the spine, long bones, and head. Symptoms include missing ribs, joint pain, club feet, scoliosis, fractured bones, and stubby fingers.

Spondyloepiphyseal dysplasia congenital (SED): SED is a rare disorder in which a person suffers from deformities even before birth. It is also a type of skeletal dysplasia. Major symptoms of SED differ from person to person, but some of the common ones include short neck, spinal malformation, kyphosis, and lumbar lordosis.

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