Diagnosis Search
Diagnosis Found!
Kayla Doane, DOB 7/28/95
Diagnosis Found: Kayla has been diagnosed with Rett syndrome.
Features and Characteristics:
- Global developmental delay
- Microcephaly
- Aphasia
- Slight upslant to the palpebral fissures
- Epicanthal folds
- Prominent nasal profile
- Elongated philtrum
- Upper lip tapered to corner with a small mouth
- Narrow palate with broad alveolar ridges
- Slight hyperactive reflexes
- Hypotonia
- Happy disposition, laughter with and without provocation
- Seizures (absence and petit mal)
- Non-ambulatory
- Sleep apnea
- Small hands and feet
- Feeding disorder (fed via G-tube)
Testing with negative results:
- Angelman syndrome (FISH, methylation studies and UBE3A mutation all negative)
- Prader-Willi syndrome
- 22q disorders
- Velocardiofacial syndrome
- Smith-Magenis syndrome
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