User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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McKusick Type Metaphyseal Chondrodysplasia
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McKusick type metaphyseal chondrodysplasia (cartilage-hair hypoplasia, CHH) is a rare, inherited bone-growth disorder. Babies and children have short limbs, ...

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Cartilage-Hair Hypoplasia Syndrome
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Cartilage-hair hypoplasia syndrome is a rare genetic condition that affects the bones, hair, blood, and immune system. It is present from birth and usually ...

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Autosomal Recessive Metaphyseal Chondrodysplasia
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Autosomal recessive metaphyseal chondrodysplasia (often called McKusick-type metaphyseal chondrodysplasia or ā€œcartilage-hair hypoplasiaā€) usually refers to a ...

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Cartilage-Hair Hypoplasia (CHH)
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Cartilage-hair hypoplasia (CHH) is a rare genetic condition. It mainly affects bone growth, hair, and the immune system. Children are usually short from birth. ...

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Malignant Neoplasm of Cartilage Tissue
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Chondrosarcoma is a cancer that starts from cartilage-forming cells. It most often grows in bones of the pelvis, ribs, shoulder girdle, or skull base, and less ...

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Malignant Cartilage Neoplasms
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A malignant cartilage neoplasm is a cancer that starts from cells that make cartilage, the smooth, rubbery tissue that cushions joints. The most common type is ...

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Cartilaginous Cancer
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Cartilaginous cancer—called chondrosarcoma—is a malignant tumor that forms from cartilage-producing cells. It most often starts in the pelvis, shoulder, ribs, ...

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Cancer of Cartilage Tissue
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Cancer of cartilage tissue is a rare cancer that starts in cartilage—the smooth, rubbery tissue that cushions the ends of bones at joints and forms parts of ...

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Cartilage Cancer
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Cartilage cancer is usually called chondrosarcoma in medical books. It is a malignant (cancerous) tumor that starts in cartilage cells, most often in the bones ...

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Maroteaux-Le-Merrer-Bensahel Syndrome
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Maroteaux-Le-Merrer-Bensahel syndrome is the name used for carpotarsal osteochondromatosis (CTOC), an ultra-rare primary bone dysplasia marked by abnormal bone ...

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Carpotarsal Osteochondromatosis (COT)
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Carpotarsal osteochondromatosis (COT) is a very rare bone growth disorder. Extra bone-and-cartilage lumps (called osteochondromas) form around the small joints ...

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Acrocephalopolysyndactyly Type 2 (ACPS-2)
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Acrocephalopolysyndactyly type 2 is the medical name for Carpenter syndrome. It is a rare, inherited condition present from birth. Two body systems are ...

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Carpenter Syndrome
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Carpenter syndrome is a rare genetic condition. It affects how the skull, face, fingers, toes, and some internal organs form before birth. The skull bones ...

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Paraganglioma
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Paraganglioma is a rare tumor that grows from special nerve-related cells called paraganglia. These cells sit beside blood vessels and nerves throughout the ...

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Neoplasm of the Carotid Body
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A neoplasm of the carotid body (also called a carotid body tumor, a type of head-and-neck paraganglioma) is a growth that starts in the carotid body, a tiny ...

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Chemodectomas
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Chemodectomas (also called head & neck paragangliomasĀ most commonly carotid body, jugulotympanic, vagal, or laryngeal tumors) are rare tumors that grow ...

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Carotid Body Paraganglioma
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A carotid body paraganglioma (CBP) is a slow-growing tumor that starts in the carotid body, a small sensor at the split of the carotid artery in the neck. The ...

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Caroli Syndrome
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Caroli syndrome is a rare birth (congenital) disorder of the bile ducts inside the liver. In this condition, the large bile ducts are abnormally wide (dilated) ...

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Caroli Disease
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Caroli disease is a rare, congenital (present from birth) condition of the bile ducts inside the liver. In this disorder, parts of the large intrahepatic bile ...

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Carnosinemia
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Carnosinemia is a very rare inherited metabolic disease. It happens when the body does not have enough of an enzyme called carnosinase. This enzyme normally ...

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