Definition

What is achodrongenesis?

Achondrogenesis is a rare and severe group of genetic disorders that lead to a short trunk, small limbs, and a narrow chest. This condition happens when the body is not able to produce enough growth hormone. As a result, cartilage and bone don’t develop properly, causing abnormalities in the skeletal system.

You’re more probably to have a child with this disorder if both you and your partner carry the gene. Most babies with achondrogenesis usually die before or right after birth because they can’t breathe properly. No treatments exist for the disorder. Care focuses on making the baby as comfortable as possible for the duration of their life.

How common is achodrongenesis?

According to statistics collected by the National Institute of Health, the occurrence of achondrogenesis and a similar bone growth disorder called hypochondrogenesis have been observed in one in every 40,000 to 60,000 infants.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of achodrongenesis?

Short limbs and a narrow chest are common to all types of achondrogenesis. The other symptoms vary by type. Genetic testing may be necessary to distinguish the exact type.

Type 1A symptoms

  • Soft skull bone
  • Poorly formed spine and pelvic bones
  • Short and easily breakable ribs

Type 1B symptoms

  • Round belly
  • Pouch near the belly button
  • Short toes and fingers
  • Inwardly rotated feet

Type 2 symptoms

  • Short ribs
  • Poorly developed lungs
  • Cleft palate
  • Small chin
  • Large forehead and belly

This disorder is usually categorized into three different types based on the pattern of inheritance, signs, and symptoms.

  • Type 1A

In achondrogenesis type 1A, the baby’s skull bone is very soft and the limbs are very short. As with all three types, the chest is narrow, making it hard for the baby to breathe. The bones in the spine and pelvis don’t form well. The baby also has short ribs that break easily.

  • Type 1B

Type 1B is very similar to 1A, and distinguishing between the two types often requires a genetic test. In addition to the very short limbs and narrow chest, type 1B includes a round belly and sometimes a pouch near the groin or belly button. If your baby has this type of achondrogenesis, their feet may be inwardly rotated. The toes and fingers are also very short.

  • Type 2

As with the other two types, babies born with type 2 achondrogenesis have short limbs and a narrow chest. Their ribs are usually short and their lungs aren’t well developed. The bones in the spine and pelvis are not well formed. The roof of the mouth may have an opening known as a cleft palate. A small chin and large forehead are other signs. The belly may be large, and some infants will have too much fluid in their bodies before they’re born.

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes achodrongenesis?

This rare disorder is hereditary. If both you and your partner carry the gene, there is a 25-percent chance that your child will have the condition. Since the genetic disorder is recessive, the parental carriers of the gene show no signs or symptoms of the condition.

Risk factors

What increases my risk for achodrongenesis?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Having family member with this condition

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is achodrongenesis diagnosed?

If your doctor suspects that you experience Achodrongenesis, he/she will perform an exam thoroughly to determine this condition.

Other tests may be done to clarify a diagnosis or to prepare for surgery. These tests include:

  • X-rays to examine your baby’s bones
  • Ultrasound
  • CT-scan
  • MRI

Usually, the signs are obvious to the human eye, and your doctor will know right away if your baby has some type of the condition

How is achodrongenesis treated?

No treatments exist for achondrogenesis. To keep your baby as comfortable as possible, the hospital will monitor the infant and possibly use a breathing machine. Medication may also be needed to limit pain and discomfort.

Babies born with achondrogenesis usually die quickly because their small chests don’t allow them to breathe. Many die in utero.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage achodrongenesis?

If achondrogenesis exists in your family, your only option for preventing the disorder is to have genetic counseling prior to starting a family. During genetic counseling, a specialist will collect your medical histories, asking about illnesses that have occurred on both sides of your families. Medical practitioners will run tests to determine whether you and your partner are carrying the genes for achondrogenesis. Couples with a family history of achondrogenesis might choose to exercise this option before deciding whether or not to have a baby.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: June 27, 2017 | Last Modified: June 27, 2017

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