User Posts: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia
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Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia is a rare, inherited brain disease. It mainly hurts three places: the substantia nigra ...

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Azorean Disease of the Nervous System
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Azorean Disease of the Nervous System is an inherited brain and nerve disorder that gradually affects balance, walking, speech, and eye movements. The main ...

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Autosomal Dominant Striatonigral Degeneration
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Autosomal dominant striatonigral degeneration is an old name from the 1970s for a hereditary movement disorder first described in large Portuguese (Azorean) ...

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Azorean Disease
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Azorean disease (Machado-Joseph disease/SCA3) is a rare, inherited brain disorder that slowly affects balance, walking, speech, eye movements, and fine hand ...

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Axial Spondylometaphyseal Dysplasia (SMDAX)
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Axial spondylometaphyseal dysplasia is a very rare genetic bone growth disorder. “Axial” means the center line of the body (spine, ribs, pelvis, and nearby ...

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Osteomesopyknosis
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Osteomesopyknosis is a very rare, benign (non-cancerous) bone condition in which parts of the axial skeleton—mainly the spine and pelvis—look denser and whiter ...

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Osteomesopycnosis
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Osteomesopycnosis is a very rare, benign bone condition. It causes patchy hardening of bone (osteosclerosis) that is mainly limited to the axial skeleton — the ...

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Axial osteosclerosis
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Axial osteosclerosis means the bones of the axial skeleton become extra dense and hard. The axial skeleton is the spine, ribs, sternum, and pelvis. In axial ...

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Axial Osteomalacia
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Axial osteomalacia is an exceptionally rare bone disorder where the axial skeleton (spine, ribs, pelvis) develops a dense, coarse, sponge-like trabecular ...

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Russell–Weaver–Bull Syndrome
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Russell–Weaver–Bull syndrome” is an older eponym for what modern sources call the axial mesodermal dysplasia spectrum (AMDS)—a pattern of birth differences ...

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Blastogenesis Defect (Impaired Lymphocyte Proliferation)
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A “blastogenesis defect” means your white blood cells—especially T-lymphocytes—do not “wake up,” grow bigger, and multiply as they should when they meet a ...

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Axial Mesodermal Dysplasia Spectrum (AMDS)
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Axial Mesodermal Dysplasia Spectrum (AMDS) is a rare condition that begins very early in pregnancy when the embryo is forming. It describes patients who show ...

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Axenfeld-Rieger Syndrome (ARS)
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Axenfeld-Rieger syndrome (ARS) is a rare genetic condition that mainly affects the front part of the eye (the “anterior segment”). It changes the way the iris, ...

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Axenfeld Anomaly
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Axenfeld anomaly is a birth-time (congenital) change in the front part of the eye. The clear window of the eye (cornea) has a rim inside it called Schwalbe’s ...

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Combined Granular-Lattice Corneal Dystrophy Type 2
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Combined Granular-Lattice Corneal Dystrophy Type 2 is an inherited corneal dystrophy caused most commonly by the R124H mutation in the TGFBI (TGFBIp) gene. ...

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Avellino Corneal Dystrophy
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Avellino corneal dystrophy is a genetic eye condition. A change (mutation) in the TGFBI gene makes a sticky, abnormal protein collect in the clear front window ...

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