2009-02-23T14:47:07+00:00

13q Deletion Syndrome is a rare chromosomal disorder caused by the deletion of the long arm of the 13th chromosome.

1360 13q Deletion Syndrome

13q-deletion-syndrome

Per 100,000 Population

Orbeli syndrome, Chromosome 13q Deletion Syndrome

2010-03-07T01:39:49+00:00

2009-08-27T12:11:01+00:00

15q 26.2 Deletion is a microdeletion on part of the long arm of chromosome 15.

1435 15q 26.2 Deletion

15q-26-2-deletion

Per 100,000 Population

2009-08-27T12:11:01+00:00

2009-08-19T20:43:20+00:00

1411 17-Beta-Hydroxysteroid Dehydrogenase Deficiency

17-beta-hydroxysteroid-dehydrogenase-deficiency

Per 100,000 Population

17-Beta-Hydroxysteroid Dehydrogenase III Deficiency, 17 Beta Hydroxysteroid Dehydrogenase Deficiency, 17 Beta Hydroxysteroid Dehydrogenase III Deficiency

2009-08-19T20:43:20+00:00

22q11.2 Deletion Syndrome is caused by a missing (or deleted) part of the 22 chromosome, including some of the genes within it.

2008-09-02T20:49:22+00:00

22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22.

22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22 characterized by cleft palate, heart abnormalities and learning disabilities.

There are several symptoms that affect people with 22q11.2 Deletion Syndrome.

1201 22q11.2 Deletion Syndrome

22q11-2-deletion-syndrome

Per 100,000 Population

VCFS, Velo-Cardio-Facial Syndrome, Shprintzen Syndrome, DiGeorge Sequence, DiGeorge Syndrome, Velocardiofacial Syndrome, Strong Syndrome, Velo Cardio Facial Syndrome, V.C.F.S.

2009-10-07T21:58:43+00:00

2008-10-23T16:26:07+00:00

22q13 Deletion Syndrome is a rare genetic disorder caused by the deletion of the location q13.3 on chromosome 22.

1226 22q13 Deletion Syndrome

22q13-deletion-syndrome

Per 100,000 Population

Phelan-McDermid Syndrome, Phelan McDermid Syndrome

2009-09-21T19:36:29+00:00

2008-12-14T22:20:18+00:00

48,XXYY syndrome is a rare genetic condition caused by a chromosome aneuploidy. 48 XXYY syndrome is diagnosed either by prenatal testing during pregnancy or by a blood test which examines the chromosomes (karyotype) of the patient.

48,XXYY syndrome is a rare genetic condition caused by a chromosome aneuploidy.

1272 48,XXYY Syndrome

48-xxyy-syndrome

2.5

http://www3.interscience.wiley.com/journal/119140435/abstract

Per 100,000 Population

48 XXYY Syndrome, Klinefelter's Syndrome,

2009-04-15T17:09:32+00:00

2009-08-20T12:16:25+00:00

1430 Aagenaes Syndrome

aagenaes-syndrome

Per 100,000 Population

cholestasis-lymphedema syndrome, CLS, cholestasis lymphedema syndrome

2009-09-17T22:19:36+00:00

2008-10-24T20:35:26+00:00

Aarskog-Scott Syndrome is a rare genetic disease characterized by short stature, facial abnormalities, skeletal and genital anomalies.

1228 Aarskog-Scott Syndrome

aarskog-scott-syndrome

Per 100,000 Population

Aarskog Syndrome, AAS, Faciodigitogenital Syndrome, Shawl Scrotum Syndrome, Faciogenital Dysplasia, Aarskog Scott Syndrome

2009-07-31T21:18:47+00:00

2009-08-19T20:47:07+00:00

Aase Syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities.

1413 Aase Syndrome

aase-syndrome

Per 100,000 Population

Aase-Smith Syndrome, Aase Smith Syndrome

2009-08-19T21:01:31+00:00

2008-05-21T13:25:34+00:00

Acalvaria is a rare malformation characterized by the absence of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones.

Acalvaria is a rare malformation characterized by absence of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones.

886 Acalvaria

acalvaria

1.0

http://www.orpha.net

Per 100,000 Population

Acrania, Congenital Malformation

2009-02-10T14:42:15+00:00

Causes include using contaminated water on contact lenses, using homemade solutions to store and clean contacts, wearing contact lenses in a hot tub and swimming or showering while wearing lenses.

2008-05-21T13:25:34+00:00

Acanthamoeba Keratitis is a rare eye infection resulting from an amoeba that is most commonly associated with incorrect contact lens handling and exposure to unsanitary conditions.

856 Acanthamoeba Keratitis

acanthamoeba-keratitis

1.0

http://www.orpha.net

Per 100,000 Population

2008-12-27T05:56:31+00:00

Genetic

2008-05-21T13:25:34+00:00

Acatalasemia a genetic deficiency of erythrocyte catalase characterized by infection of the gums.

766 Acatalasemia

acatalasemia

3.1

http://www.orpha.net

Per 100,000 Population

Acatalasia, Takahara's disease, Takaharas disease

2009-09-17T22:46:26+00:00

2008-05-21T13:25:35+00:00

Aceruloplasminemia is a rare iron metabolism disorder characterized by progressive neurodegeneration of the retina and basal ganglia, and diabetes mellitus.

1027 Aceruloplasminemia

aceruloplasminemia

0.05

http://www.orpha.net

Per 100,000 Population

Neurodegeneration with Brain Iron Accumulation, NBIA

2010-01-24T18:58:44+00:00

The official cause of Achalasia is unknown, but it is believed to be caused by infection, heredity or an autoimmune disease.

2008-07-14T22:56:55+00:00

Achalasia is a rare disorder affecting the lower esophageal sphincter characterized by difficulty in swallowing (dysphagia) and regurgitation of undigested food.

1174 Achalasia

achalasia

8.0

http://www.coughjournal.com/content/4/1/6

Per 100,000 Population

Esophageal Achalasia, Achalasia Cardiae, Cardiospasm, Dyssynergia Esophagus, Esophageal Aperistalsis, primary achalasia

2010-02-09T17:13:02+00:00

2009-08-19T22:32:20+00:00

1427 Acheiropodia

acheiropodia

Per 100,000 Population

Horn Kolb Syndrome, Acheiropody, Aleijadinhos

2009-08-19T22:32:20+00:00