Disability Awareness

Q is for Q FEVER (#AtoZChallenge)

Q fever is an infectious disease that is spread by the inhalation or ingestion of a bacterium known as Coxiella burnetii, which belongs to the order of Legionellales. C. burnetii is spread mainly by breathing contaminated air or eating or drinking a contaminated food. Farm workers, especially those who work with animals, people who work […] Read more…

P is for PYRUVATE KINASE DEFICIENCY(#AtoZChallenge)

Red cell pyruvate kinase deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood due to premature destruction of red blood cells (hemolytic anemia); abnormally increased levels of bilirubin in the blood (hyperbilirubinemia); abnormal […] Read more…

O is OCULO-DENTO-DIGITAL DYSPLASIA (#AtoZChallenge)

Oculo-dento-digital dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). There also have been a few instances in which it is thought to have been inherited as an autosomal recessive trait. Major symptoms […] Read more…

N is for NEU LAXOVA SYNDROME (#AtoZChallenge)

Neu-Laxova syndrome (NLS) is a rare genetic disorder that is inherited as an autosomal recessive trait. The syndrome is characterized by severe growth delays before birth (intrauterine growth retardation); low birth weight and length; and distinctive abnormalities of the head and facial (craniofacial) region. These may include marked smallness of the head (microcephaly), sloping of […] Read more…

M is for Myhre syndrome (#AtoZChallenge)

Myhre syndrome is an extremely rare inherited disorder characterized by mental retardation, short stature, unusual facial features, and various bone (skeletal) abnormalities. Characteristic facial features may include abnormally narrow skin folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), underdevelopment of the upper jaw bone (maxillary hypoplasia), and an unusually prominent jaw (prognathism). Other […] Read more…

L is for L1 SYNDROME (AtoZChallenge)

L1 syndrome is an inherited, X-linked disorder occurring in males that primarily affects the nervous system. The disease is mainly characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped towards the palm), aphasia (difficulty with speaking), seizures, and agenesis of the corpus callosum […] Read more…

K is for Keutel syndrome (#AtoZChallenge)

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Less than 30 cases have been reported in the literature so far, with the majority of patients being diagnosed during childhood. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling […] Read more…

J is for Joubert syndrome (#AtoZChallenge)

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Prevalence is estimated at approximately 1/100,000. In the neonatal period, the disease often manifests by an irregular breathing pattern (episodic tachypnea […] Read more…

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