Aldred syndrome
From WikiMD's WELLNESSPEDIA
| Aldred syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Short stature, facial dysmorphism, skeletal abnormalities |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Aldred syndrome is an X-linked recessive genetic disorder. It is mainly characterized by a form of mental retardation and retinitis pigmentosa. The syndrome was first described by geneticist Micheala Aldred in 1994.[1]
Cause[edit]
Aldred syndrome is caused by a deletion on the p11.3 area of the X-chromosome.[2]
