Table 3 Semi-structured history form to be completed by the patient while waiting for the specialist evaluation (cardiologist, rheumatologist, orthopedist, ophthalmologist)

 Have you ever had ocular problems?

  If yes

Has an eye care specialist ever said that you suffer from:

• corneal opacities

• retinal pigmentation

• retinal degeneration

• glaucoma

• atrophy of the optic nerve

 Have you ever had heart problems?

  If yes

Has a cardiologist ever told you that you have heart valve abnormalities?

 Have you ever had hearing and /or respiratory problems?

  If yes

Have you ever had:

• permanent rhinitis

• repeated infections of the upper airways

• hearing loss

• language delay

• laryngotracheal stenosis

• tonsillectomy

• adenoidectomy

• wheezing with your shortness of breath

• sleep apnea

 Have you ever had musculoskeletal problems?

  If yes

Have you ever had:

• spinal cord compression (a severe thickening of the tissue along the spine)

• contractures or joint deformity

• skeletal deformity not secondary to trauma

• fixed flexion deformity of fingers

• carpal tunnel syndrome

• pain in or around your joints

• orthopedic surgery (Please list any surgical procedures you have undergone)

• valgus knee, trigger finger, joint laxity

 Have you ever had abdominal problems?

  If yes

Have you ever had:

• an enlarged liver (hepatomegaly)

• An enlarged spleen (splenomegaly)

• an umbilical hernia

• an inguinal hernia

Are your parents blood relatives?

Did you have a slower growth during early childhood?

Were you born prematurely?

Do you think that there are any conditions or illnesses which run in your family? If do, please specify which ones: