From Wikipedia, the free encyclopedia
| Disorder
|
Prevalence
|
Gene Mutation
|
Systems Affected
|
Symptoms
|
Survival Rate
|
Treatment
|
| Aniridia
|
1 in 50,000 to 100,000 newborns worldwide
|
PAX6
|
Vision
|
Lack of iris. Other conditions can include glaucoma, foveal hypoplasia, nystagmus, strabismus, dry eye, corneal degeneration, and cataracts
|
Non-lethal
|
tinted or photochromic lenses to reduce light sensitivity
|
| Asymmetric crying facies
|
1 in 160 live births
|
22q11.2 deletion syndrome
|
depressor anguli oris muscle (facial)
|
agenesis or hypoplasia causing a weakness seen during smiling or crying
|
Non-lethal
|
No treatment needed
|
| Morquio Syndrome
|
1 in 200,000
|
|
Musculoskeletal, Metabolic
|
Abnormal heart and skeletal development. Short limbs. Corneal Clouding
|
Non-lethal
|
Enzyme replacement
|
| Wolfram
|
1 in 500,000
|
WFS1 (type 1) and CISD2 (type 2)
|
Metabolic, optic, neurologic
|
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness
|
Reduced lifespan
|
Diabetic treatment, symptom mitigation
|
