Diagnosed on September 24 2003
"Velocardio Facial Syndrome"
Clinically diagnosed with normal chromosome test results.
http://www.vcfsef.org/
Symptoms of the above diagnosis

Features & Characteristics

Head

- Macrocephaly

Face

- Micrognathia

Eyes

- Severe hypemetropia
- Blue scelerae
- Mild hypertelorism at birth but eyes look normal now

Mouth

- High arched palate with suspected sub-mucous cleft

Hair

- hair very fine

Abdominal

- Pectus excavatum

 

Limb

- Joint laxity

Lower Limb

- Downs syndrome toes! ..massive gap between big toe and next
- Hips very narrow, rather short thigh bones
- Flat feet with pronation..wears AFO's/ orthopedic boots

 

Skeletal

- Back abnormally long

Neuroligical Functional

- Some autistic type difficulties
- Muscle weakness tires very quickly
- Hypotonia
- Global developmental delay
- Speech delay severe articulation difficulties
- Siezures ..but no one has quite decided what type
- Hypernasal voice

Muscle

- Muscle loss and scapula winging..skinny prominent upper body

Contact: Julie mom to Charlie at julie@radford95.freeserve.co.uk
Website: http://homepage.ntlworld.com/julieradford

Any troubles with e-mails send to swanusa@undiagnosed-usa.org