User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
0
Chorioretinopathy Syndrome
0

Chorioretinopathy syndrome is a general name for eye diseases that damage both the retina (the light-sensing layer) and the choroid (the blood-vessel layer ...

0
Macular Atrophy-Chorioretinopathy Syndrome
0

Macular atrophy-chorioretinopathy syndrome is a very rare eye disease present from birth. In this disease the back part of the eye (the retina) and the layer ...

0
Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome
0

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome is a very rare, inherited eye disease. In this condition, the nerve head at the back of the ...

0
Microphthalmia, Syndromic Type 14
0

Microphthalmia, syndromic type 14 is a very rare genetic disease that affects the eyes, bones, and body growth. In this condition, one or both eyes are very ...

0
Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia
0

Microphthalmia-coloboma-rhizomelic skeletal dysplasia is a very rare genetic syndrome that affects eye development, bone growth, and sometimes the brain and ...

0
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome
0

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a very rare genetic condition that starts when the baby is still in the womb. In this syndrome, ...

0
Hypogenitalism
0

Hypogenitalism means that the genitals stay too small and “child-like” for the person’s age. In simple words, the sex organs do not grow and mature in the ...

0
Colobomatous Microphthalmia–Obesity–Hypogenitalism–Intellectual Disability Syndrome
0

Colobomatous microphthalmia–obesity–hypogenitalism–intellectual disability syndrome is a very rare genetic condition. In this syndrome, both eyes are small ...

0
MACOM Syndrome
0

MACOM syndrome means “macrophthalmia, colobomatous, with microcornea.” It is a very rare genetic eye problem. In this condition, the clear front window of the ...

0
Colobomatous Macrophthalmia-Microcornea Syndrome
0

Colobomatous macrophthalmia-microcornea syndrome is a very rare eye condition that is present from birth and runs in families. In this condition, the clear ...

0
Congenital Optic Disc Coloboma
0

Congenital optic disc coloboma is a birth defect of the optic nerve head (the place where the nerve enters the back of the eye). In this condition, a piece of ...

0
Coloboma of the Optic Papilla
0

Coloboma of the optic papilla means there is a “hole” or deep pit in the optic disc (optic nerve head) that is present from birth. The optic disc is the round, ...

0
Coloboma of the Optic Nerve
0

Coloboma of the optic nerve means there is a small “missing piece” or deep hole in the tissue where the optic nerve meets the back of the eye. This hole is ...

0
Sorsby Syndrome
0

Sorsby syndrome is a very rare genetic disease that affects both the eyes and the fingers and toes from birth. The main problems are a special type of eye ...

0
Coloboma of Macula–Brachydactyly Type B Syndrome
0

Coloboma of macula–brachydactyly type B syndrome is a very rare genetic condition that affects both the eyes and the hands/feet from birth and lasts for life. ...

0
Congenital Coloboma of the Macula Lutea
0

Congenital coloboma of the macula lutea (macular coloboma) is a rare eye problem that is present from birth. In this condition, some of the normal tissue in ...

0
Coloboma of the Macula
0

Coloboma of the macula (macular coloboma) is a rare birth problem of the eye in which a piece of the macula is missing or badly formed. The macula is the very ...

0
Coloboma of the Choroid and Retina
0

Coloboma of the choroid and retina (often called chorioretinal coloboma) is a birth defect of the back part of the eye. In this condition, there is a missing ...

0
Collecting Duct Renal Cell Carcinoma
0

Collecting duct renal cell carcinoma is a rare and very aggressive type of kidney cancer. It starts in the small tubes at the very end of the kidney’s ...

0
Collecting Duct Carcinoma of the Kidney
0

Collecting duct carcinoma of the kidney is a very rare and very aggressive type of kidney cancer. It starts in the last part of the kidney tubes, called the ...

Browsing All Comments By: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
RxHarun
Logo