Is dwarfism hereditary? How does dwarfism manifest in infancy and childhood?

Dwarfism is becoming less and less common nowadays, but it is still a nightmare for prenatal checkups... According to medical statistics, there is a 50% chance that the next generation of parents with dwarfism will inherit the disease. So will normal parents give birth to children with dwarfism? Can it be prevented? This article will help you find out!

What is dwarfism?

Dwarfism is a rare disease that is mainly caused by "inheritance" or "self-gene mutation", resulting in chondrodysplasia. It is a "genetic defect" (Note 1) and whether a person is a patient is determined before birth. It is currently incurable but can be diagnosed through regular prenatal examinations or growth status after birth.

People with dwarfism appear to be much shorter than the average person, with larger heads and some even hunchbacks. Other features include a protruding forehead, a flat nose, and a protruding chin. Sometimes they also have poor dental structure, such as overcrowding and malocclusion.

People with dwarfism have the same intelligence as normal people, but due to congenital genetic defects, they are prone to severe developmental delays and may also suffer from complications such as hydrocephalus, sudden death, herniated disc, bone spurs, limb paralysis, otitis media, sinusitis, etc.

How is dwarfism inherited?

Since dwarfism is caused by a genetic defect, the normal incidence rate is 1/25,000~1/40,000. Although the probability is not high, the patient's next generation has a high chance of encountering a genetic defect, which means that dwarfism is hereditary. However, inheritance has its own pattern and is not 100% hereditary. The following will introduce you to:

1. If one of the spouses is suffering from achondroplasia, the chance of giving birth to a child with the disease is 50%, and conversely, the chance of giving birth to a normal child is also 50%.

2. If the child is not born a dwarf, it means that he/she does not have a genetic defect, so the probability of having a dwarf in the next generation is not higher, and is the same as the probability of the average person (1/25,000~1/40,000).

3. According to statistics, more than 80% of dwarfism patients have normal parents, which means that cartilage dysplasia is caused by self-gene mutation.

4. For normal parents who have given birth to a child with dwarfism, the chance of their next child having achondroplasia is higher than the average person, with a 2 in 1,000 chance.

Can dwarfism be prevented?

So far, there is no definite way to prevent dwarfism, but we can try to reduce the occurrence of babies with dwarfism through nutritional supplements during pregnancy and regular prenatal examinations.

Prenatal nutritional supplements

From the early stages of pregnancy, please pay more attention to a balanced diet. For example, folic acid, which can prevent neural tube defects in the fetus, and lecithin, which helps the baby's brain and nerve development, should be supplemented in a timely and appropriate amount.

It is very important for pregnant women to have regular prenatal checkups, which can protect themselves and track the fetus. Usually, dwarfism is more accurately detected at least after 24 weeks of pregnancy. Mothers who are not confident in using ultrasound can also undergo amniocentesis. However, no matter which test is used, the accuracy rate cannot be 100% (about 60-80%), so please be mentally prepared!

Observe the baby's growth after birth

Under normal circumstances, babies will grow up slowly according to the growth curve after birth, including gross motor skills, fine motor skills and language development. However, babies with dwarfism usually have developmental delays. For example, babies cannot control their heads well at 3 or 4 months old, or cannot walk until they are 2 or 3 years old. These may be related to dwarfism.