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Diagnosis & Disease Information

Congenital Genu Recurvatum
Profile in Rare Diseases

Congenital Genu Recurvatum

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Genu recurvatum loosely translates as backward-bending knee. It is also known as congenital dislocation of the knee (CDK) or congenital dislocation of the patella (CDP), and sometimes as congenital hyperextension. CDK is a rare condition with an incidence rate of approximately 1 per 100,000 live births. It is characterized by congenital hyperextension of the knee and marked limitation of flexion. Patients with this condition present with a patella that is dislocated laterally, permanently, and irreducibly. However, there is some disagreement with this description. Some suggest obligatory patella dislocation is a separate condition where the dislocation is hypoplastic to start and becomes fixed into the lateral position as the child grows. Some physicians believe this condition should be renamed developmental dysplasia and dislocation disorder (DDDP) to more accurately reflect it as a wide-spectrum disorder.

Primary Amoebic Meningoencephalitis
Profile in Rare Diseases

Primary Amoebic Meningoencephalitis (PAM)

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There is no escaping the fact that our world is teeming with microorganisms. They share our world and are all around us. They live on, as well as inside, everyone. Some are beneficial. In industry, they are used to help break down hazardous waste in the development of food, biofuels, biotechnologies, and pharmaceuticals. Human flora and fauna contribute greatly to an individuals overall heath. They help boost our immune system and are key players in the production of biotin and vitamin K. It has even been suggested that mitochondria, our cellular powerhouse, are derived from a symbiotic relationship between eukaryotic cells (cells with a nucleus) and ancient bacteria that could produce energy through aerobic respiration.

Fibrodysplasia Ossificans Progressiva
Profile in Rare Diseases

Fibrodysplasia Ossificans Progressiva

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Fibrodysplasia Ossificans Progressiva (FOP) is one of the rarest diseases in the world. Patients with FOP are born with characteristic malformations of the great toes (short and bent, sometimes turning inward), but otherwise these children appear normal.

Wilson's Disease
Profile in Rare Diseases

Wilson’s Disease

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At age 24, a young woman (let’s call her Ann) was healthy, vibrant, and carefree. After her 25th birthday, Ann began to experience upper limb tremors. Within 4 months, the tremors progressed to all of Ann’s limbs, followed by bouts of mania. Due to the neuropsychological presentations, a psychiatrist prescribed Ann haloperidol, chlorpromazine, and propranolol to treat the mania. A further regimen of levodopa and carbidopa was prescribed by a neurophysician to treat the atypical Parkinson’s.

Chimera
Profile in Rare Diseases

Chimera

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In genetics, a chimera is an individual with 2 or more distinct, unrelated genetic lineages (ie, 46XX/46XX, 46XX/46XY, or 46XY/46XY). This condition is not to be confused with germline mosaicism, in which a mutation occurs during mitosis, altering part of a genetic line (aneuploidy). In mosaics, typically transcription errors result in a chromosome that may be either duplicated or deleted. The mutated cell is further copied, appearing separate from other cells (46XX/47XX or 46XY/47XY) but in fact, a single lineage exists. An individual with germline mosaicism shouldn’t have any related health issues since it is not a systemic mutation. An example of mosaicism where a systemic mutation exists is Trisomy 21, or Down’s syndrome, where a duplicating error occurs on chromosome 21 affecting all or nearly every cell.

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