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Wiskott-aldrich syndrome registry -- data collection form

DiGeorge Syndrome (DGS) Registry Data Collection Form_

Patient Identification:
Patient Name (first, middle, last)_________________________________________________________
Patient’s USIDNET Registry Number assigned after online enrollment ________
Date of Birth _____/_____/______(mm/dd/yyyy) or Year of Birth _________
Gender: male [ ], female [ ]
Home Address:
Date of this Record Completion (mm/dd/yyyy): _____/_____/_______ Date of Visit (mm/dd/yyyy): /
Is this the initial registration of this patient[ ] or follow-up?[ ]
Submitting Physician Information:
DiGeorge Syndrome (DGS) Registry Data Collection Form_

Diagnostic Criteria

[ ] Defined genetically only (chromosome 22q11.2 deletion, TBX mutation, chromosome 10p13-14 deletion) [ ] Classic clinical triad for complete DiGeorge syndrome: (Conotruncal cardiac anomaly, hypocalcemia, CD3 T cells < 500 /mm3 in the first 3 months of life) [ ] Combination of genetic and phenotypic features (Mark all that apply) Conotruncal cardiac anomaly or cardiothoracic vascular anomaly Cleft palate (frank clefting or submucous cleft) Velopharyngeal insufficiency/ hypernasal speech
DGA Gene Mutation
(Number nucleotides using Human Mutation 11:1-3, 1998) Mutation analysis performed by _______________________________________________ [ ] Hemizygous deletion of chromosome 22q11.2 [ ] TBX point mutation (please specify)_____________________ [ ] Hemizygous deletion of 10p13-14 [ ] CHD7 mutation (please specify)_______________________ [ ] Fetal toxin exposure (please specify) (often maternal diabetes, alcohol, isotretinoin)_________ [ ] Other (please specify) _________________________________________ DiGeorge Syndrome (DGS) Registry Data Collection Form_
Genetic Information

Sporadic [ ] (no prior family history) or ______________ [ ] pattern of inheritance
Family history
Please list additional relationships. If more space is needed, please use the Memo section at the end of this form.
Relation DGS
Normal Not Carrier Unknown Undiagnosed
deceased
suggestive symptoms
Information on Other Affected Kindred Members listed above Relationship
Initials
Year of Birth
Listed in Registry? Yes/No/Unknown
DiGeorge Syndrome (DGS) Registry Data Collection Form_

Other treatments used
n OR Date begun

Other? Please explain _________________________________________________________
Surgery (Check all that apply)

Yes

Developmental interventions (Check all that apply)

Yes

Outcome
What is the biggest issue this patient faces?____________________________________________

DiGeorge Syndrome (DGS) Registry Data Collection Form_
Additional Clinical Features of Special Interest
Check all that apply

Unknown Problems in infancy
Thymus Normal Size  Hypoplastic  Absent  Endocrine
Hypocalcemia requiring more than 2 months of oral supplementation Receiving passing grades in regular classes at grade level Barely passing regular classes at grade level For adults: highest grade completed: ______ Performance at most recent level? Satisfactory / Unsatisfactory Neuropsychiatric
Attention deficit hyperactivity disorder Social/behavior (for patients over 16 years of age)

Additional comments:

Source: http://www.usidnet.org/elements/uploads/fck-files/file/DGS.pdf

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