Waardenburg syndrome

Waardenburg syndrome is a rare genetic condition characterized by distinctive facial features, varying degrees of hearing loss, and pigmentation abnormalities. Named after Dutch ophthalmologist Petrus Johannes Waardenburg, who first described it in 1951, this syndrome affects approximately 1 in 40,000 more…



Sjögren’s syndrome

Sjögren’s syndrome is a chronic autoimmune disorder characterized by inflammation and dysfunction of the body’s moisture-producing glands, particularly the salivary and lacrimal glands. This condition primarily affects the mucous membranes and moisture-secreting glands, leading to symptoms such as dry eyes more…



Reiter’s syndrome (reactive arthritis)

Reiter’s syndrome, also known as reactive arthritis, is a type of inflammatory arthritis that typically develops as a reaction to an infection in another part of the body. This condition is characterized by joint pain, swelling, and stiffness, often accompanied more…



Duane syndrome

Duane Syndrome, also known as Duane Retraction Syndrome or Duane’s Syndrome, is a rare congenital eye movement disorder characterized by limitations in horizontal eye movement. Named after ophthalmologist Alexander Duane, who first described it in 1905, this condition affects the more…



Horner’s syndrome

Horner’s syndrome is a neurological condition characterized by a distinct constellation of symptoms resulting from disruption of a specific pathway within the sympathetic nervous system. Named after the British ophthalmologist, Jonathan Hutchinson Horner, who first described it in 1869, this more…



Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS), often referred to as Lou Gehrig’s disease, is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord. This debilitating condition leads to the gradual degeneration and loss of control over voluntary more…



Narcolepsy

Narcolepsy is a neurological disorder characterized by excessive daytime sleepiness and sudden uncontrollable episodes of falling asleep during the day. People with narcolepsy often experience fragmented nighttime sleep and may also suffer from symptoms such as cataplexy (sudden loss of more…



Stiff Person Syndrome

Stiff Person Syndrome (SPS) is a rare neurological disorder characterized by muscle stiffness and rigidity that can progressively worsen over time. This condition primarily affects the muscles of the trunk and limbs, leading to debilitating stiffness that can severely impact more…



Splenic Flexure Syndrome

What is Splenic Flexure Syndrome? This is a digestive disorder that is characterized by gas that has become trapped inside the flexures that are located in your colon. The splenic flexure is a sharp bend between your transverse colon and more…



Morquio Syndrome

Morqui syndrome (MPS IV) is one type of mucopolysaccharidosis which is a metabolic disorder. There is insufficient or not enough enzyme, glycosaminoglycans (mucoploysaccharides), needed to synthesize long chains of sugar molecules. Excessive mucopolysaccharides accumulates on the bone marrow, blood, respiratory more…



Goldenhar Syndrome

What is Goldenhar Syndrome? There are various congenital defects that affect children and one of this is the Goldenhar Syndrome otherwise known as Oculo-Auriculo-Vertebral Syndrome or Hemifacial microsomia which was first recorded last 1952 by Dr. Maurice Goldenhar, a French more…



Rett Syndrome

What is Rett Syndrome? This is an uncommon disorder genetically affecting brain development. It arises almost entirely in females. At first most infants with this syndrome will develop normally, but the symptoms begin to emerge after six months. Those with more…



DiGeorge Syndrome

What is DiGeorge Syndrome? This is a disorder that is caused by a defective chromosome – to be exact chromosome 22. This causes poor development of different body systems. This syndrome is also known as “22q11.2 deletion syndrome”. Problems medically more…



Treacher Collins Syndrome

What is Treacher Collins Syndrome? This is a condition that is hereditary meaning that it is passed down thru family generations. It leads to defects of the face caused by a defective protein. This birth defect occurs in approximately 1 more…



Williams Syndrome

What is Williams Syndrome? This is a disorder that is genetic and is very rare leading to problems with development. Those parents with children who have this disorder may not have had any family history of this problem. But, anyone more…



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