User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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Notochordal Sarcoma
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Notochordal sarcoma is another name doctors sometimes use for chordoma, a rare cancer that starts from tiny leftover pieces of the embryo’s notochord (a soft ...

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Chordoma
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Chordoma is a rare type of bone cancer that grows in the bones of the spine or at the base of the skull. It starts from leftover cells of the notochord, a soft ...

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Fibrochondrosarcoma
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Fibrochondrosarcoma is a rare cancer of the skeleton that starts from cartilage-making cells and fibrous (scar-like) tissue in bone or sometimes in soft tissue ...

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Malignant Chondrosarcoma
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Malignant chondrosarcoma is a cancer that starts from cartilage-forming cells. Cartilage is the smooth, rubbery tissue that covers the ends of bones and helps ...

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Chondrosarcoma
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Chondrosarcoma is a type of cancer that starts in cartilage-making cells. Cartilage is the smooth, rubbery tissue that covers the ends of bones and helps ...

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Chondroectodermal Dysplasia with Night Blindness
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Chondroectodermal dysplasia with night blindness is a very rare genetic disease. It mainly affects how bones grow and how “ectodermal” tissues, such as nails ...

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Pseudohermaphroditism
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Pseudohermaphroditism is an old medical word for a group of conditions where a person’s chromosomes and internal sex organs are clearly male or clearly female, ...

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Nivelon-Nivelon-Mabille Syndrome (NNMS)
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Nivelon-Nivelon-Mabille syndrome (NNMS) is a very rare genetic condition that affects bone growth, brain development, and the way sex organs develop in some ...

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Chondrodysplasia with Disorder of Sex Development Syndrome
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Chondrodysplasia with disorder of sex development syndrome is a very rare genetic condition that affects both the bones and the way the sex organs and sex ...

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Chondrodysplasia-Pseudohermaphroditism Syndrome
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Chondrodysplasia-pseudohermaphroditism syndrome is an extremely rare genetic condition that affects bone growth, brain development, and sex development at the ...

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Chondrodysplasia With Joint Dislocations, gPAPP Type
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Chondrodysplasia with joint dislocations, gPAPP type, is a very rare genetic bone disease. Babies are usually born with short arms and legs, loose joints, and ...

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Toriello-Higgins-Miller Syndrome
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Toriello-Higgins-Miller syndrome is a very rare genetic disease that mainly affects the bones, face, hands and feet, and sometimes the eyes, brain, and heart. ...

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Chondrodysplasia Punctata, Toriello Type
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Chondrodysplasia punctata, Toriello type is a very rare inherited bone growth disorder. It mainly affects the ends of the bones near the joints, where small ...

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Chondrodysplasia Punctata, Tibial-Metacarpal Type
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Chondrodysplasia punctata, tibial-metacarpal type, is a very rare birth bone condition. It mainly affects the small bones of the hands and the shin bone ...

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Happle Syndrome
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Happle syndrome is another name for Conradi–Hünermann–Happle syndrome, also called X-linked dominant chondrodysplasia punctata type 2 (CDPX2). It is a very ...

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Conradi-Hünermann-Happle Syndrome
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Conradi-Hünermann-Happle syndrome is a very rare genetic disease that mainly affects bones, skin, hair, and eyes. It is a type of bone growth problem called ...

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Chondrodysplasia Punctata, Conradi-Hünermann Type
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Chondrodysplasia punctata, Conradi-Hünermann type, is a rare genetic disease that mainly affects bones, skin, and eyes. It belongs to a group of bone growth ...

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Chondrodysplasia Punctata 2, X-Linked Dominant
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Chondrodysplasia punctata 2, X-linked dominant (often written as CDPX2) is a rare genetic disease that mainly affects bones, skin, and eyes. In this condition, ...

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Chondrodysplasia Calcificans Congenita
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Chondrodysplasia calcificans congenita is a very rare genetic bone growth disorder that belongs to the broader group called chondrodysplasia punctata. In this ...

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Chondrodysplasia Punctata (CDP)
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Chondrodysplasia punctata (CDP) is a group of very rare bone growth disorders that start before birth. In this condition, areas of cartilage (the soft “model” ...

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