Achondrogenesis | Osteochondrodysplasias | Skeletal dysplasia




Achondrogenesis is generally described as rare skeletal dysplasia in which the patient will experience extreme shortening of the arms and legs when it is compared to the trunk, ribs, vertebrae, and overall skeletal. And this disorder is also called osteochondrodysplasias. Because of the characteristics of this disorder it will be extremely life-threatening to the people, especially during their infancy stage as the newborns will die shortly because of respiratory failure. Types of Achondrogenesis are:


  • Achondrogenesis type IA (Houston-Harris type).

  • Achondrogenesis type IB (Fraccaro type).

  • Achondrogenesis type II (Langer-Saldino type).


Type IA and type IB of Achondrogenesis are autosomal recessive. And Achondrogenesis type II autosomal dominant disorder makes all other types different from each other types. But three types of Achondrogenesis are usually identified by prenatal ultrasound examination within 14-17 weeks of gestational age.


Causes


Each type of Achondrogenesis is different from each other type as the main cause of the mutation in every case varies among all other types. The main and key role of genes in your body is to provide command to cells for creating proteins which plays an important role in many body functions. So, when there is any fault in the overall development of a gene which gives the instructions that your default gene sends and creates defaults in the body which lead to life-threatening abnormalities  for the rest of your life.


As defined above, Type IA and type IB of Achondrogenesis can be only inherited in an autosomal recessive manner. So the root cause of the mutation is to inherit the same gene from one of the parents of the patient.


Mutated TRIP11 gene is responsible for Achondrogenesis type IA and for the  Achondrogenesis type IB is responsible for mutated SLC26A2 gene. The above two genes will play an important role when it comes to transportation of cellular certain cartilage proteins which are necessary to build an efficient skeleton and other tissues in the human body.


Mutated Genes of TRIP11 and SLC26A2 result in the deficiency of the Golgi microtubule that can be combined with protein 210 and sulphate transporter both are responsible for the proper growth development and functions of the cartilage. Type IB Achondrogenesis is the  subdivision as a sulfation disorder as the health condition which is associated with mutated SLC26A2 gene.


Cartilage is a special tissue which acts as a cushion between all joints of the body. In early stages of structural development of bones, the embryo of a skeleton has fragile structured cartilage which later develops into bones. Abnormal development of the cartilage tissues causes some frictions between the bones which makes it difficult in moving or in this case it holds back the overall growth of the skeletal system.


Signs & symptoms of Achondrogenesis


General symptoms:


  • Premature birth

  • Cleft palate which is the Incomplete closure of the roof of the mouth

  • Abnormal or ossified head shape

  • short size of neck, limbs, and ribs

  • Flat vertebrae

  • Abnormal accumulation of fluid in the body is called Hydrops fetalis

  • Small thoracic cage

  • Ear deformities

  • Corneal clouding


Achondrogenesis type IA symptoms:


  • Flat face

  • Protruding eyes and tongue

  • Short trunk and limbs

  • Short beaded ribs

  • Ossification of the skull

  • spine, pelvis, and extremities abnormalities

  • Small thorax which can be lead to early death


Achondrogenesis type IB symptoms:


  • Short trunk and limbs

  • Narrow chest

  • Prominent abdomen

  • Umbilical or inguinal hernia

  • Inward turned feet with short fingers and toes

  • Flat face associated with short neck and cleft palate

  • Unusual thickening of the soft tissue in the neck part


Achondrogenesis type II symptoms:


  • Narrow chest

  • Smaller arms or legs

  • Thin ribs

  • Flat vertebra

  • Underdeveloped lungs

  • Small chin

  • Cleft palate

  • Clubfeet

  • formation of spine and pelvis is abnormal

  • Hydrops fetalis

  • Enlarged abdomen


Diagnosis


Your healthcare provider conducts a group of tests which assist the physical features. Tests like X-ray, and take a tissue sample through histology and molecular genetic tests to confirm the SLC26A2 gene mutations. This will help you further to confirm the type of Achondrogenesis in the infancy stages.


Achondrogenesis can also be diagnosed in the prenatal stages by performing an ultrasound, amniocentesis, and a chorionic villus sampling within 14-15 weeks gestation. If the gene mutations will be detected in other members of the family, amniocentesis and a chorionic villus sampling test are only the solution.


Treatment


Achondrogenesis treatment is planned by a team of professionals in a symptomatic and supportive manner. It involves palliative care where your provider will try to ease the pain, discomfort, stress, and all other symptoms.


In addition with physiotherapy, genetic counselling and psychosocial support are also suggested for the patient and their family members.


Psychosocial Support


Family and friends can offer support by:


  • Talk more about the baby as a person and also use the baby’s name

  • Do not compare with an early pregnancy loss, or miscarriage

  • acknowledging the suggestions of the parents as valid and reasonable

  • if the parents decided to terminate the pregnancy, you do not judge or shame the parents.

  • Offering more support by giving meals or care for other kids

  • Helping parents to find the ways to memorialize the baby

  • If the parents choose to attend the funeral

Frequently Asked Questions


Q1. What is the cause of achondrogenesis?

Ans: Genetic mutations (changes in genes) cause achondrogenesis; each type of achondrogenesis is related to a specific mutation.


Q2. What happens to someone with achondrogenesis?

Ans:  Infants with Achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs.


Q3. What is achondrogenesis type 1?

Ans: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs.


Q4. Can achondrogenesis be cured?

Ans: No treatment can cure achondrogenesis. In most cases, the baby dies before or shortly after birth. Sometimes the baby is stillborn.


Q5. How do you treat achondrogenesis?

Ans: Medical care is supportive in achondrogenesis. No treatment is available for the underlying disorder.




 

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