User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Bockenheimer Syndrome
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Bockenheimer syndrome—also called Bockenheimer disease or genuine diffuse phlebectasia—is a rare vascular anomaly in which most of the length of one limb (arm ...

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Tritanomaly
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Tritanomaly is a blue–yellow color vision deficiency. Your eye has three kinds of cone cells to see color: red-sensing (L), green-sensing (M), and blue-sensing ...

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Tritan Defect
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A tritan defect is a problem with seeing and separating colors along the blue–yellow line. It happens when the short-wavelength (S) cones in the retina do not ...

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Tritan Colour Blindness
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Tritan colour blindness is a problem with telling blue from green and yellow from violet. In this condition, the short-wavelength cone cells in the retina ...

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Tritan Color Blindness
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Tritan color blindness is a problem with seeing blue and yellow correctly. It happens when the S-cones (short-wavelength cones) in the retina—or the ...

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Dyschromatopsia
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Dyschromatopsia means a problem seeing or telling colors apart. Colors may look faded, washed-out, wrong, or all very similar. Some people are born with it ...

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Congenital Tritanopia
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Congenital tritanopia is a very rare, inherited color-vision condition. People with tritanopia cannot see blue and yellow in the normal way. The problem sits ...

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Blue/Yellow Color Vision Defect
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A blue/yellow color vision defect means the eye and brain have trouble telling blue from green and yellow from violet. In the classic form (called “tritan”), ...

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Blue-Yellow Dyschromatopsia
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Blue-yellow dyschromatopsia is a problem in seeing or separating blue from yellow hues. In the inherited form, the short-wavelength (blue-sensing) cone cells ...

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Blue Color Blindness
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Blue color blindness is a problem with seeing short-wavelength (“blue”) light accurately. It happens when the S-cones (the blue-sensitive cone cells in the ...

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Congenital Telangiectatic Erythema
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Congenital telangiectatic erythema is an inherited disorder that starts at birth and involves the skin, growth, the immune system, the endocrine system, and ...

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Bloom–Torre–Machacek Syndrome
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Bloom–Torre–Machacek syndrome is a rare, inherited condition. It affects growth, skin, the immune system, and cancer risk. Children are small at birth. They ...

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Bloom Syndrome
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Bloom syndrome is a very rare inherited condition that makes a person’s DNA less stable than usual. DNA is the instruction code in every cell. In Bloom ...

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Blindness–Scoliosis–Arachnodactyly Syndrome
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Blindness–Scoliosis–Arachnodactyly syndrome is a very rare genetic condition that mainly affects the eyes and the skeleton. People develop progressive vision ...

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Meige Dystonia
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Meige dystonia is a movement disorder that affects the face. It mainly causes strong, repeated spasms of the eyelid muscles (called blepharospasm). It also ...

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Meige Syndrome
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Meige syndrome is a neurological movement disorder that affects the face. It happens when two problems occur together: (1) blepharospasm—involuntary blinking ...

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Blepharospasm-Oromandibular Dystonia Syndrome
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Blepharospasm-oromandibular dystonia syndrome is a neurological movement disorder where certain face and jaw muscles contract by themselves. People have ...

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Blepharoptosis-Myopia-Ectopia Lentis Syndrome (BMEL)
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Blepharoptosis-Myopia-Ectopia Lentis syndrome is a very rare, inherited eye problem. BMEL is a very rare genetic eye condition seen at birth. People have three ...

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Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome (BPES)
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Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome (BPES) is a rare condition that affects the eyelids from birth. The eye openings are narrow from side to ...

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Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES)
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Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition present from birth. It changes how the upper eyelids and the inner corners of ...

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