Lorna's Signs and Symptoms

Some of you haven't seen Lorna's whole list of signs and symptoms, so I thought I would share with you all. Now I realise that many of the medical terms may be a different language to some of you. I use this listing method on SWAN USA's website for the our children's page to allow doctors to view and potential give input on things to look into. I will also take this oppertunity to explain signs and symptoms.

What is a Syndrome?

A Syndrome is a group of signs, symptoms, or features that occur together and create a picture which may suggest the presence of a particular medical condition or disorder.

Symptoms are subjective evidence of a medical condition that are experienced by a patient and reported in the medical history such as pain, nausea, or dizziness.

Signs are objective evidence of a disorder that a physician or nurse can recognize during a physical examination such as wheezing, visual impairment, or a seizure.

Lorna's Signs & Symptoms

Build / Stature
- Short Stature
- Below the 5%
- Low birth weight at full term (4lbs 13oz)

Head
- Microcephaly (42cm)
- Plagiocephaly

Face
- Facial asymmetry
- Poorly formed philtrum

Ears
- Lowset ears
- Left ear is hypoplastic with over folded pinnae
- Right ear is cupped shaped with over folded pinnae

Eyes
- Ptosis on left eye
- Anisometropia
- Right congenital superior oblique palsy (strabismus)

Nose
- Large Nasal Polyp removed on 1/29/08
- Alae nasi is hypoplastic
- Prominent nasal bridge

Mouth
- Thin upper lip

Teeth
- Multiple impacted teeth
- Cross bite
- Late eruption 12months

Nails
- Terry's Nails

Chest
- Nipples hypoplastic and laterally displaced, in early childhood
- Pectus excavatum

Abdominal
- Umbilical hernia

Upper Limb
- Mild 5 finger clinodactyly
- Long tapering fingers
- Bridge crease on right

Skeletal
- Over Pronation of Ankles (new finding 2008)
- Delayed bone age of more than 3 years
- Scoliosis, slight
- Abnormal skull shape

Skin
- Multiple warts on face, hands and feet for a period of 4 years

Alimentary Tract
- Chronic
- Gastro Esophageal reflux

Cardiac
- Atrail septal defect closed on its own at age 4

Vascular
- Raynauds Phenomenon or Acrocynosis

Muscle
- Contractures

Hematological System
- Immune Thrombocytopenic Purpura (low platelets) for 6 months

Neurological Structural
- Small Brain

Neurological Functional
- Dysarthia, Apraxia
- Mild to Moderate Delayed in all areas

Laboratory Test and Findings
- Townes Brocks Syndrome SALL1 gene (pending)
- CHARGE Syndrome CHD7 gene (pending)
- Treacher Collins Syndrome TCOF1 gene (pending)
- Goldberg-Shprintzen Syndrome KIAA1279 gene (pending)
- SNP Array (pending)
- Comparative Genome Hybridization (Feb 2005, Normal)
- 22q11 (FISH) (Normal)
- Chromosome analysis (Normal)
- Subtelomeric FISH probe study (Normal)
- Skin biopsy fibroblast (Normal)
- Fanconi Anemia (Normal)
- MRI - small brain