True regarding X-linked recessive disorders is
(A) Menkey's kinkey hair diseases-copper # MENKES KINKY HAIR SYNDROME is an X-linked metabolic disturbance of copper metabolism characterized by mental retardation, hypocupremia, and decreased circulating ceruloplasmin. It is caused by mutations in a copper-transporting ATP7A gene. Children with this disease often die within 5 years because of dissecting aneurysms or cardiac rupture.> MFS is characterized by a triad of features: (1) long, thin extremities frequently associated with other skeletalchanges, such as loose joints and arachnodactyly;(2) reduced vision as the result of dislocations of the lenses (ectopia lentis);and (3) aortic aneurysms that typically begin at the base of the aorta. The disorder is inherited as an autosomal dominant trait; at least one-fourth of patients do not have an affected parent, and therefore probably represent new mutations.> The changes in Ehler Danlos syndrome vary from thin and velvety skin to skin that is either dramatically hyperextensible ("rubber man" syndrome) or easily torn or scarred. Type I patients develop characteristic "cigarette-paper"scars. In type IV extensive scars and hyperpigmentation develop over bony prominences, and the skin may be so thin that subcutaneous blood vessels are visible. In type VIII the skin is more fragile than hyperextensible, and it heals with atrophic, pigmented scars. Easy bruisability occurs in several types of EDS.> The diagnosis of classic AS is based on X-linked inheritance of hematuria, sensorineural deafness, and lenticonus. Because of the X-linked transmission, women are generally underdiagnosed and are usually less severely affected than men. The hematuria progresses to nephritis and may cause renal failure in late adolescence in affected males and at older ages in some women. The sensorineural deafnes is primarily in the high-tone range. It can frequently be detected only by an audiogram and is usually not progressive. The lenticonus can occur without nephritis but is generally considered to be pathognomonic of classic ASR. Renal transplantation is usually successful.
Menkey's kinkey hair diseases -- Copper
Rubber man syndrome -- Lungs
Alports syndrome -- Skin
Marfans syndrome -- MS
Miscellaneous