Achondrogenesis is a severe congential growth hormone deficiency that affects cartilage and bone development. This rare genetic disease is characterized by narrow chest, rounded abdomen, and extremely short limbs. There are majorly three types of achondrogenesis, type 1A, type 1B and type 2. Out of these three, type 1B is most severe and caused by mutations in the SLC26A2 gene. Achondrogenesis type 1B (ACG1B) is also known as Parenti-Fraccaro type. Achondrogenesis exhibits various symptoms such as, abdominal distention, flat face, anteverted nares, frontal bossing, lethal skeletal dysplasia, hydropsfetalis, abnormal enchondral ossification, and many others. According to the U.S National Library of Medicine, the incidence of 1A and 1B, whereas achondrogenesis type 2 occur in 1 in 40,000 to 60,000 newborns. The condition of achondrogenesis type 2 is mostly found in combination with hypochondrogenesis.
Appropriate treatment for the condition is unknown but to deal with the symptoms associated with achondrogenesis, palliative care is suggested by physicians. Genetic Counseling is also recommended to the people who have genetic disorders in their family history. Diagnosis or testing of achondrogenesis is based on histopathologic, clinical, and radiologic features. As per an article published in GeneReviews book, it is found that SLC26A2 is the only mutated gene known to cause ACG1B. Out of all the testing methods, molecular genetic testing is the most commonly used diagnosis for Achondrogenesis Type 1B. Molecular genetic testing method includes targeted mutation analysis, sequence analysis, and deletion/duplication analysis
Segmentation
The achondrogenesis market is segmented on the basis of type, diagnosis, and end-users.
On the basis of type, market is segmented into achondrogenesis type IA (Houston-Harris type), achondrogenesis type IB (Parenti-Fraccaro type), and achondrogenesis type II (Langer-Saldino type).
On the basis of diagnosis, market is classified into physical examination, molecular genetic testing, and biochemical testing. Physical examination is further classified into X-ray, ultrasound, and others. Molecular genetic testing is also further segmented into Chorionic villus sampling (CVS), aminocentesis, and others.
On the basis of end-users, market is segmented into hospital & clinics, diagnostic centers, research & academic institutes, and others.
Key Players
Some of key the players in the achondrogenesis market are Cook, Thermo Fisher Scientific, CooperSurgical Inc., Illumina, Inc., Siemens AG, FUJIFILM Holdings Corporation, Koninklijke, Philips N.V., Stryker, Toshiba Corporation, Invivoscribe, Abbott Molecular Inc., INVITROGEN CORPORATION, Roche Molecular Systems, Inc., and others.
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