Genetic disorders that new parents should know about

A couple waiting to welcome their first child has inexplicable levels of excitement. While you are happily waiting for the birth of your little one, there also exists an anxious feeling. Will my baby be born healthy? There is constant thought about the health and well-being of the little one. 40

There are certain genetic disorders that a minute proportion of children globally are diagnosed with right at birth. Although, the odds are on the lower side. However, it is essential for you to know about them and be prepared. 

Here, we mention prevalent inherited syndromes in newborns. Read on to learn about each in detail

  • Down syndrome 

It is a disorder caused due to anomalous cell division. Children with down syndrome have an extra full or partial chromosome. It causes physical and cognitive developmental changes in children.

Babies with down syndrome may exhibit the following symptoms: 

  • Flattened face
  • Protruding tongue
  • Upward slanting eyelids
  • Short neck
  • Excessive flexibility 
  • Poor muscle tone


Infants with down syndrome may have typical size at the time of birth but show a slow growth later. Diagnosis can be before or at birth. Earlier, such people had a little life expectancy. However, it has dramatically increased in recent years. 

There is no one treatment for every down-syndrome patient around the world. All of them have different needs; some may need more cognitive help, while others may need treatment for heart illnesses. 

Craniofacial syndrome

It is a rare genetic defect found in 16 children per 1 million. The babies inherit genetic mutations from their parents. It is mainly caused due to alteration in FGFR2 and FGFR 3 proteins.

Doctors diagnose crouzon syndrome at birth based on distinctive physical signs. 

In this, children may have: 

  • Bone deformities in the face
  • Jaw deformities (protruding lower jaw, receding upper jaw)
  • Difficulty in breathing 
  • Wide-set eyes
  • Misshapen head and more. 

There are several surgeries and procedures available for this disease, depending on the severity of the condition. The pediatrics and syndrome specialists sit together to discuss the case of the affected baby. Some procedures are surgical, while others are not. 

  • Carpenter disorder 

It is a rare congenital condition wherein babies have abnormal growth in their skulls, toes, and fingers. The primary cause of the diseases is the passing of mutated genes from parents during the fetus’s development.

The children affected with this syndrome often experience the following symptoms: 

  • Webbed, fused, or unusually short fingers 
  • Misshapen, low-set ears
  • Crooked teeth
  • Hearing loss
  • Bone deformities in the spine, knees, hips, and more. 

The syndrome is typically diagnosed at or shortly after birth. The misshapen skull is also a symptom of many other syndromes. Therefore, the specialists run x-rays and more to check the deformities in other body parts such as fingers, toes, and spine. 

The treatment options include surgery on the skull to relieve pressure. Other treatment options include procedures to improve facial and dental deformities. 

Bottom line

Genetic diseases are rare, but the probability still exists. So, it is better to know the situation well in advance. It helps to tackle the problem in a much more positive and better way. In addition, each condition now has a medical treatment available. 

Note: This is a collaborative post

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