Disability Awareness

I is for Isaac syndrome (#AtoZChallenge)

Isaac’s syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. Prevalence is unknown but 100 -200 cases have been reported so far. The age of disease onset ranges from infancy to the sixth decade, with a peak incidence between forty […] Read more…

H is for Hyper IgD syndrome (HIDS) (AtoZChallenge)

Hyper IgD syndrome (HIDS) is a rare inflammatory genetic disorder characterized by periodic episodes or “attacks” of fever associated with additional symptoms including joint pain (arthralgia), skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. HIDS […] Read more…

G is for Galloway-Mowat Syndrome (#AtoZChallenge)

Galloway-Mowat Syndrome, which is also known as Microcephaly-Hiatal Hernia-Nephrotic Syndrome, is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities. Physical features may include an unusually small head (microcephaly) and additional abnormalities of the head and facial (craniofacial) area; damage to clusters of capillaries in the kidneys (focal […] Read more…

F is for Fountain syndrome (#AtoZChallenge)

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features of Fountain syndrome include moderate to severe intellectual […] Read more…

E is for Evans syndrome (#AtoZChallenge)

Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic […] Read more…

D is for DYGGVE MELCHIOR CLAUSEN SYNDROME (#AtoZChallenge)

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother’s paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the […] Read more…

C is for CONRADI HÜNERMANN SYNDROME (#AtoZChallenge)

Conradi-Hünermann syndrome is a rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. Conradi-Hünermann syndrome is classified as a form of chondrodysplasia punctata, a group of disorders characterized by the formation of small, hardened spots […] Read more…

B

B is for Bowen-Conradi syndrome (#AtoZChallenge)

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. The birth prevalence is estimated at 1 per 355 live births within the Hutterite population living in small farming colonies in […] Read more…

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