1.
Disease
CFC syndrome
Costello syndrome
Neurofibromatosis type 1
Noonan Syndrome
CM-AVM
SYNGAP1
2.
Respondent's Name Initials
3.
Patient's Year of Birth
4.
Patient's Sex
Male
Female
5.
Does patient have a sacral dimple?
Yes
No
Other (please specify)
6.
Does patient have gait changes/leg weakness?
Yes
No
Other (please specify)
7.
Does patient have tight Achillies tendon?
Yes
No
Other (please specify)
8.
Does patient have hand/foot deformities?
Yes
No
Other (please specify)
9.
Does patient have constipation?
Yes
No
Other (please specify)
10.
Does patient have leg pain?
Yes
No
Other (please specify)
11.
Does patient have coordination issues?
Yes
No
Other (please specify)
12.
Does patient have bladder or bowel incontinence?
Yes
No
Other (please specify)
13.
Is patient clumsy/increased clumsiness?
Yes
No
Other (please specify)
14.
Does patient have frequent falls/leg collapse?
Yes
No
Other (please specify)
15.
Does patient have muscle atrophy?
Yes
No
Other (please specify)
16.
Does patient have an odd stance?
Yes
No
Other (please specify)
17.
Does patient have back pain?
Yes
No
Other (please specify)
18.
Does patient have frequent headaches?
Yes
No
Other (please specify)
19.
Does patient have scoliosis?
Yes
No
Other (please specify)
20.
Does patient have rigid legs/spasticity?
Yes
No
Other (please specify)
21.
Does patient have tuft of hair on lower back?
Yes
No
Other (please specify)
22.
Does patient have a fat pad on lower back?
Yes
No
Other (please specify)
23.
Does patient have frequent UTIs?
Yes
No
Other (please specify)
24.
Does patient have lumbar lordosis?
Yes
No
Other (please specify)
25.
Does patient have spasticity in arms?
Yes
No
Other (please specify)
26.
Is patient suspected of having Tethered Cord syndrome?
Yes
No
Other (please specify)
27.
Has patient had an MRI for suspected Tethered Cord syndrome?
Yes
No
Results of MRI
28.
Has patient had urodynamic testing?
Yes
No
Results of Urodynamic Testing
