May 2020 - Page 12 of 15

Achondroplasia

What is achondroplasia Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development.

Ureterocele

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Ureterocele Ureterocele is a cystic out-pouching of the distal ureter into the urinary bladder resulting in obstruction of urine flow,

Cyclic neutropenia

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Cyclic neutropenia Cyclic neutropenia is a rare disorder that causes frequent infections and other health problems in affected individuals ((Cyclic

TAR syndrome

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What is TAR syndrome TAR syndrome is also known as thrombocytopenia-absent radius syndrome, which is a rare inherited condition where

Diamond Blackfan anemia

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What is Diamond Blackfan anemia Diamond-Blackfan anemia is a rare inherited blood disorder that is characterized by a failure of

Fanconi anemia

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What is Fanconi anemia Fanconi anemia is a rare, inherited blood disorder that leads to bone marrow failure (aplastic anemia). The disorder also is called Fanconi's anemia. Fanconi anemia is a condition that affects many

Klippel Feil syndrome

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What is Klippel Feil syndrome Klippel Feil syndrome is a rare congenital (present at birth) bone disorder characterized by the

Paroxysmal nocturnal hemoglobinuria

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Paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) also called Marchiafava-Micheli Syndrome or paroxysmal hemoglobinuria, is a rare acquired blood disorder

Megaloblastic anemia

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What is megaloblastic anemia Megaloblastic anemia also known as macrocytic anemia, is a disorder of the bone marrow characterized by

Spider angiomas

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What is spider angioma A spider angioma is also called spider telangiectasia, spider nevus, arterial spider, vascular spider and naevus