User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Primary Osteosarcoma of Bone
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Primary osteosarcoma is a cancer that starts in the bone itself. The tumor cells are abnormal bone-forming cells. They make a disorganized, immature bone ...

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Osteogenic Sarcoma
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Osteogenic sarcoma, also called osteosarcoma, is a cancer that starts in bone-forming cells. These cancer cells make immature bone (“osteoid”) inside the ...

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Osteosarcoma
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Osteosarcoma is a cancer that starts in the bone-making cells. These cells normally build the hard mineral part of bone. In osteosarcoma they grow out of ...

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Connective Tissue Disorder due to Lysyl Hydroxylase-3 Deficiency (PLOD3-Related Disorder)
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Connective tissue disorder due to lysyl hydroxylase-3 deficiency (PLOD3-related disorder) is a rare genetic disease that affects the body’s collagen—the ...

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Bone Fragility-Contractures-Arterial Rupture-Hearing Loss Syndrome
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Bone fragility-contractures-arterial rupture-hearing loss syndrome/BCARD syndrome is a very rare, inherited connective-tissue disease. “Connective tissue” is ...

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Bone Fragility-Contractures-Arterial Rupture-Deafness (BCARD) Syndrome
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Bone Fragility-Contractures-Arterial Rupture-Deafness (BCARD) Syndrome is a very rare, inherited connective-tissue disease. It happens when both copies of the ...

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Bone Abnormalities, Cataract, Arterial Rupture, and Deafness
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Bone abnormalities is a problem with how bones are built, shaped, or strengthened. The problem can be present from birth (genetic) or can happen later. Bones ...

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Bone Fragility with Contractures, Arterial Rupture, and Deafness (BCARD)
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Bone fragility with contractures, arterial rupture, and deafness (BCARD) is a rare, inherited connective-tissue disorder. The body’s collagen—the protein that ...

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Autosomal Recessive Lethal Chondrodysplasia, Round Femoral Inferior Epiphysis (RFIE) Type
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Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis (RFIE) type” is a very rare, severe bone-growth disorder seen in newborns and ...

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Autosomal Recessive Lethal Chondrodysplasia, Round Femoral Inferior Epiphysis Type
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Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type is a severe genetic disorder that affects how bones grow before and after ...

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Bone Dysplasia, Lethal Holmgren Type
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Bone dysplasia, lethal Holmgren type is a very rare, inherited disorder that affects how a baby’s bones grow before birth. The main problems are very short ...

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Machupo Hemorrhagic Fever
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Machupo hemorrhagic fever is a severe viral illness that affects the whole body. The virus is called Machupo virus, an arenavirus. People usually get infected ...

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Bolivian Hemorrhagic Fever (BHF)
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Bolivian hemorrhagic fever is a severe viral illness that happens in parts of Bolivia. The virus that causes it is called Machupo virus. This virus belongs to ...

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Opitz Trigonocephaly-Like Syndrome
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Opitz trigonocephaly-like syndrome describes a rare group of genetic conditions where a baby is born with a triangular forehead from early fusion of the ...

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Oberklaid–Danks Syndrome
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Oberklaid–Danks syndrome, which is the original/alternate name for Bohring–Opitz syndrome (BOS)—a very rare genetic condition first separated from “Opitz ...

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BOS Syndrome
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BOS syndrome—a very rare genetic (present at birth) condition, most often caused by new (de novo) changes in the ASXL1 gene. Children have a recognizable ...

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Bohring-Opitz Syndrome
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Bohring-Opitz syndrome is a very rare genetic condition caused most often by a new (not inherited) change in the ASXL1 gene. Babies usually have trouble ...

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Pseudoxanthoma Elasticum-Like Syndrome (PXE-Like Syndrome)
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Pseudoxanthoma Elasticum-Like Syndrome (PXE-Like Syndrome) is a rare inherited skin and connective-tissue condition that looks very similar to classic ...

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Body Skin Hyperlaxity due to Vitamin K-Dependent Coagulation Factor Deficiency
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Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare inherited skin and blood-clotting disorder. The skin over the ...

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Genuine Diffuse Phlebectasia of Bockenheimer
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Genuine diffuse phlebectasia is a rare venous malformation. “Phlebectasia” means abnormally enlarged veins. In this condition, the enlargement is diffuse ...

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