Matching Achondroplasia Noonan Syndrome Cystic Fibrosis Marf

Matching Achondroplasia Noonan Syndrome Cystic Fibrosis Marfan Syndrome Ehlers-Danlos Familial Hypercholesterolemia SCIDs Fragile X syndrome Hemophilia Adenosine deaminase deficiency Waardenberg Syndrome Polydactyly a. Autosomal recessive b. Autosomal dominant c. X-linked d. Mutation of chlorine channel leading to respiratory problems c. Collagen mutation leading to hypermobility of joints, skin, blood vessels f. Mutation of IL-2 receptor leading to lack of development of normal lymphocytes g. Mutation leads to build up of toxias in T cells leading to abnormal development of lymphocytes h. Trinucleotide expansion disorder leading to learning disabilities. ADHD, bigger ears, flat feet, flexible fingers, etc i. Mutation of clotting factors leading to abnormal bleeding j. High cholesterol levels leading to plaque build-up. atherosclerosis from lack ofLDL removal k. Mutation of fibrilin leading to abnormal growth and repair of CT causing less flexibility and stability that can lead to heart, respiratory problems, long lean limbs and fingers, etc I. RASopathy leading to disruption of cell cycle and higher susceptibility to cancer m. Mutation decreases normal development of cartilage leading to short limbs n. Mutation leads to 4 possible changes including heterochromia, premature graying, etc o. Extra digits

Solution

34. Achondroplasia - m. mutations decrease normal development of cartilage leading to short limbs. This condition is nothing but a dwarfism.

35. noonan syndrome – b. autosomal dominant disorder. It effects many parts of the body ,noonan syndrome is RASopathy caused by the disruption of the RAS-MAPK signaling pathway.

36. cystic fibrosis – d. mutation of chlorine channel leading to respiratory problems.

37. Marfan syndrome – k. mutation of fibrilin leading to abnormal growth and repair of CT causing less flexibility and stability that can lead to heart ,respiratory problems, long lean limbs and fingers, etc.

38. ehlers danlos syndrome – e. collagen mutation leading to hypermobility of joints, skin, blood vessels.

39. familial hypercholesterolemia- b. autosomal dominant, j. high cholesterol levels leading to plaque build up ,atherosclerosis from lack of LDL removal.

40. SCIDs- f. mutations of IL-2 receptor leading to the lack of development of normal lymphocytes.

41. Fragile X syndrome – h. trinucleotide expansion disorder leading to learning disabilities ,ADHD, bigger ears, flat feet, flexible fingers etc . c. X linked.

42. hemophilia – i.mutation of clotting factors leads to abnormal bleeding.

43. adenosine deaminase deficiency - a. autosomal recessive. Metabolic disorder that causes immunodeficiency.

44. Waardenberg syndrome – n. mutation leads to 4 possible changes including heterochromia, premature graying etc. normally inherited in autosomal dominant pattern but in some cases inherited in autosomal recessive pattern.

45. Polydactyly – o.extra digits and it is a autosomal dominant mutation in single gene.