Anchronogenesis Type II by https://padlet.com/princess_raja/7d2uaed9903i Made by Affy and Nadine en-us 2019-02-25 12:17:17 UTC 2024-10-15 02:32:20 UTC hello@padlet.com Anchrondrogenesis type ii princess_raja https://padlet.com/princess_raja/7d2uaed9903i/wish/334798351 Severe micromelic (abnormal smallness of one or more limbs) dwarfism with a small chest and prominent abdomen ]]> 2019-02-25 12:19:19 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334798351 Gene and Chromosome Affected princess_raja https://padlet.com/princess_raja/7d2uaed9903i/wish/334799647 This is caused by a heterozygous mutation in COL2A(stands for Collagen Type 2, Alpha 1 chain) gene on chromosome 12q13. Most severe condition on the spectrum of COL2A1 mutation.
           
Autosomal dominant trait, also occurs as a new mutation. You do not need it as part of the heritage line.
]]> 2019-02-25 12:23:34 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334799647 princess_raja https://padlet.com/princess_raja/7d2uaed9903i/wish/334800834 The head and torso are the same but the limbs are short.]]> 2019-02-25 12:27:36 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334800834 princess_raja https://padlet.com/princess_raja/7d2uaed9903i/wish/334801526 Prominent forehead and small chin, abdomen is enlarged.]]> 2019-02-25 12:29:53 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334801526 Symptoms princess_raja https://padlet.com/princess_raja/7d2uaed9903i/wish/334805258  Achondrogenesis: Types, Causes, and Symptoms      

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.

 
]]> 2019-02-25 12:41:54 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334805258 https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL2A1&keywords=col2a1,12q13 nadine_belgrave https://padlet.com/princess_raja/7d2uaed9903i/wish/334814717 click on this ]]> 2019-02-25 13:06:54 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334814717 princess_raja https://padlet.com/princess_raja/7d2uaed9903i/wish/334815535  According to statistics collected by the National Institute of Health, the occurrence of type 2 achondrogenesis and a similar bone growth disorder called hypochondrogenesis have been observed in one in every 40,000 to 60,000 infants.

]]> 2019-02-25 13:08:33 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334815535 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]GeneCards Summary for COL2A1 Gene nadine_belgrave https://padlet.com/princess_raja/7d2uaed9903i/wish/334821222 2019-02-25 13:21:36 UTC https://padlet.com/princess_raja/7d2uaed9903i/wish/334821222