Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia is a rare, inherited brain disease. It mainly hurts three places: the substantia nigra ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Azorean Disease of the Nervous System is an inherited brain and nerve disorder that gradually affects balance, walking, speech, and eye movements. The main ...
Autosomal dominant striatonigral degeneration is an old name from the 1970s for a hereditary movement disorder first described in large Portuguese (Azorean) ...
Azorean disease (Machado-Joseph disease/SCA3) is a rare, inherited brain disorder that slowly affects balance, walking, speech, eye movements, and fine hand ...
Axial spondylometaphyseal dysplasia is a very rare genetic bone growth disorder. “Axial” means the center line of the body (spine, ribs, pelvis, and nearby ...
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 ...
Osteomesopycnosis is a very rare, benign bone condition. It causes patchy hardening of bone (osteosclerosis) that is mainly limited to the axial skeleton — the ...
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 ...
Axial osteomalacia is an exceptionally rare bone disorder where the axial skeleton (spine, ribs, pelvis) develops a dense, coarse, sponge-like trabecular ...
Russell–Weaver–Bull syndrome” is an older eponym for what modern sources call the axial mesodermal dysplasia spectrum (AMDS)—a pattern of birth differences ...
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 ...
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 ...
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, ...
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 ...
Combined Granular-Lattice Corneal Dystrophy Type 2 is an inherited corneal dystrophy caused most commonly by the R124H mutation in the TGFBI (TGFBIp) gene. ...
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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