SEED - Clinic Visit- Case Child

STUDY ID#___________________________

CLASSIFYING CLINICIAN:___________________________

Gender (circle one): Male / Female Date of examination:

Mom & Dad Race/Ethnicity: Examiner:

Date of Birth: Reviewing Physician:

Chronological Age: Date of Review:

Scale QC - Use object of known weight Record weight here (including units):	Initial Scale reading with object	COMMENTS (Type of object used)

PARENT MEASUREMENTS (Do not count as a physical anomaly for dysmorphology classification)

Biological MOTHER	Measurement Note Units	Percentile	Exam Comments
Height (can be reported)		n/a	 unreliable – reason_____
Head circumference (cm)			 unreliable – reason_____
Biological FATHER	Measurement Note Units	Percentile	Exam Comments
Height (can be reported)		n/a	 unreliable – reason_____
Head circumference (cm)			 unreliable – reason_____

DYSMORPHOLOGY EXAMINATION

I. Growth Parameters

Measurement

Percentile

Exam Comments

Height (cm)

 unreliable – reason_____

Weight (kg)

 unreliable – reason_____

Head Circumference (cm)

 unreliable – reason_____

BMI and Percentile

 unreliable – reason_____

EYES

Measurement

Percentile

Photo Comments

Interpupillary distance (mm)

(not from ABASE – need to get %ile from plotting on paper)

Internal measurement (mm) ___________ Photo #­­­____________________________________________  unreliable – reason_________________

Inner canthal distance (mm)

Provided by ABASE

Internal measurement (mm) ___________ Photo #­­­___________________________________________  unreliable – reason_________________

Right PFL

Left PFL

Measurement

Photo Comments

Measurement

Photo Comments

Palpebral fissure length (mm)

Internal measurement (mm) _________ Photo #­­­___________________________  unreliable – reason___________

Internal measurement (mm) ___________ Photo #______________________________  unreliable – reason_________________

MOUTH

Measurement

Photo Comments

Philtrum (mm)

Internal measurement (mm) ___________ Photo #­­­____________________________  unreliable – reason_________________

EARS

Right Ear

Left Ear

Length (mm)

Measure

Percentile

Photo Comments

Measure

Percentile

Photo Comments

Internal measurement (mm) ______ Photo #­­­______________________  unreliable – reason___________

Internal measurement (mm) ___________ Photo #­­­____________________________  unreliable – reason_________________

HANDS From Scanner

Right Hand

Left Hand

Measurement

Scan Comments

Measurement

Scan Comments

2nd or Index finger (mm)

Internal measurement (mm) _________ Scan #­­­_________  unreliable – reason_______

Internal measurement (mm) _________ Scan #­­­_________  unreliable – reason__________

4th or ring finger (mm)

 unreliable – __________

 unreliable – __________

Digit ratio: 2nd/4th

/ / / / / / / / / / /

/ / / / / / / / / /

Measurement

Percentile

Measurement

Percentile

Middle finger (mm)

 unreliable – __________

 unreliable – __________

Palm (mm)

 unreliable – __________

 unreliable – __________

Total hand length (Middle finger + Palm) (mm)

 unreliable – __________

 unreliable – __________

FEET From Paper Markings

Right Foot

Left Foot

Measurement

Percentile

Measurement

Percentile

Foot Length (cm)

 unreliable – _________

 unreliable – __________

II. Minor congenital anomalies (take additional photos if abnormal)

Exam Comments

Photo Comments

HEAD

Normal Abnormal Brachycephaly Dolichocephaly/scaphocephaly Macrocephaly Microcephaly Plagiocephaly/asymmetrical skull Other - describe in comments

Photo #­­­_________  unreliable – __________

FOREHEAD

Normal Abnormal Prominent forehead/frontal bossing Wide forehead Narrow forehead/temporal narrowing Other - describe in comments

Photo #­­­_________  unreliable – __________

HAIR

Normal Abnormal High frontal hairline Low frontal hairline Widow's peak Frontal upsweep Double/multiple hair whorl(s) Low hairline (posterior) Hirsutism Other - describe in comments

Photo #­­­_________  unreliable – __________

FACE

Normal Abnormal Asymmetric face Coarse facial features Flat face Mid-face hypoplasia Small face Thin/long face Triangular face Absent nasolabial fold (at rest) Pointed chin Prominent mandible/prognathism Small mandible/micrognathia Other - describe in comments

Photo #­­­_________  unreliable – __________

EYES

Normal Abnormal Nodular eyelids Ptosis of eyelids Epicanthal folds (full) Palpebral fissure slant (up) Palpebral fissure slant (down) Short palpebral fissures (measurement) Wide/long palpebral fissures (measurement) Periorbital skin, general abnormalities Fullness of peri-orbital region Deep-set eyes Hypertelorism (measurement) Hypotelorism (measurement) Prominent eyes/proptosis Other - describe in comments

Photo #­­­_________  unreliable – __________

EYEBROWS

Normal Abnormal Sparse/decreased eyebrows Medial eyebrow flare Synophrys Thick eyebrows Other - describe in comments

Photo #­­­_________  unreliable – __________

NOSE SIZE

Normal Abnormal Large/long nose (by impression) Small/short nose (by impression) Other - describe in comments

Photo #­­­_________  unreliable – __________

NOSE STRUCTURE

Normal Abnormal Depressed/flat nasal bridge High/prominent nasal bridge Short nasal septum Broad nasal tip Bulbous tip Flat nose Pinched nose Upturned Broad base to nose Wide nasal bridge Other - describe in comments

Photo #­­­_________  unreliable – __________

MOUTH & LIPS

Normal Abnormal Long philtrum (measurement) Short philtrum (measurement) Simple/absent philtrum (by impression) Wide philtrum (by impression) Macrostomia Microstomia Cupid bow shape of mouth Open mouth appearance Thin lips Thin upper lip Cleft upper lip (non-midline) Tented mouth Wide mouth Down-turned corners of the mouth Prominent/everted lower lip Other - describe in comments

Photo #­­­_________  unreliable – __________

TEETH

Normal Abnormal Enamel abnormalities Irregular or crowded teeth Abnormally shaped teeth Small teeth Wide-spaced teeth Other - describe in comments

Photo #­­­_________  unreliable – __________

R

L

EARS Position, rotation, shape, & lobes

□ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □

□ □ □ □ □ □□ □□□□ □ □ □ □ □ □ □ □

Normal Abnormal Asymmetric ears Dysplastic ears Size – Large (by measurement) Size – Small (by measurement) Position - Low set Rotation - Posteriorly Shape - Simple Shape – Lop Shape – Cupped Shape – Protuberant ears Helix - Folded Helix - Notches in helix Helix – Prominent helix Helix - Crumpled helix Helix/Lobe -Auricular pits/fistulas Lobe – Adherent/attached Other - describe in comments

Photos #­­­_________  unreliable – __________

R

L

HANDS Palm and fingers

□ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □

□□□□ □ □ □ □ □□ □ □□ □ □□□

Normal Abnormal Large hands (measurement) Small hands (measurement) Camptodactyly Clinodactyly Curved 5th finger Tapering fingers Short/hypoplastic metacarpals Short phalanges Wide phalanges Long phalanges Broad thumbs Index finger > middle finger Single transverse crease Other – describe in comments

Photos #­­­_________  unreliable – __________

NAILS (indicate hands and/or feet)

□ □ □ □ □ □ □

□ □ □ □ □ □□

Normal Abnormal Hyperplastic, Includes ridged nails Hyperconvex/clubbed nails Small/hypoplastic/deepset nails Short nails Other – describe in comments

Photos #­­­_________  unreliable – __________

R

L

Exam Comments

Photo Comments

FEET Structure and toes

□ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □

□ □ □ □□ □ □ □ □□ □ □ □□ □ □ □ □□

Normal Abnormal Large feet Small feet Wide feet Club foot, varus Hallux valgus 2nd & 3rd toes as long as 1st toe 3rd toe longer than 2nd toe Syndactyly of toes (full) Syndactyly of toes (partial) R - # toes ________ L - # toes ________ Short toes Wide spaced toes Broad toes Over-riding toes (includes clinodactyly) Camptodactyly/hammer toes Toes, other Other - describe in comments

Photos #­­­_________  unreliable – __________

SKIN

Normal Abnormal Cutaneous findings using ambient light Cutaneous findings with Woods Lamp illumination Other - describe in comments

Record number, location, color, raised/flat and measurement(s):

Record number, location, color, raised/flat and measurement(s): Photo #­­­_________  unreliable – __________

GAIT

Normal Abnormal Toe walking (observed only) □ Other - describe in comments

(Do not count as a physical anomaly for dysmorphology classification)

OTHER OBSERVATIONS/COMMENTS:

PHOTOGRAPHS		CLINIC INTAKE QUESTIONS:
Examiner – Take at least one photo of each listed and mark below Head – Anterior (face) – With Reference & for hairline Head – Anterior (face) – smiling for teeth Head – Posterior – For Hairline Head – Left Lateral – Profile (include entire head in shot) Head/Ear – Left Lateral – With Reference Head – Right Lateral – Profile (include entire head in shot) Head/Ear – Right Lateral – With Reference Head – ¾ view – No reference needed Head – hair whorls – no reference Hand – Left Dorsal –Non-palm Side (single hand in photo) Hand – Right Dorsal – Non-palm Side (single hand in photo) Hand (scan) – Right Ventral – Palm Side Hand (scan) – Left Ventral – Palm Side Foot – Left Dorsal – Top of Foot (single foot in photo) Foot – Right Dorsal – Top of Foot (single foot in photo) Additional photos - Note number of photos, which abnormality, and part of body: ____________________________________________________________________________________________________________		1) Was [CHILD] born with any problems in the structure of his/her body or organs (also know as birth defects)? No Yes - describe ____________________________________ 2) Has [CHILD] had any corrective surgeries? This includes surgeries to repair findings in the abdominal or genital region (such as hernias)? No Yes - describe ____________________________________ 3) Does [CHILD] have a clinical diagnosis of a syndrome? No Possible Dx*:___________________________ Yes Dx*: ______________________________ 4) Has [CHILD] had a genetics evaluation, blood tests, or been seen by a genetic counselor? No Yes* Reason/Results:___________________________ (*IF THEY HAVE NOT DONE SO ALREADY, PLEASE BE SURE TO ASK FOR THE FAMILY TO SIGN A HIPAA MEDICAL RECORD RELEASE FOR THIS PROVIDER.)

	Criteria for Defining Feature as Dysmorphic
Measurements	Lower limit	Upper limit
BMI? Height	≤ 10th %ile	≥ 97th %ile
Weight	≤ 3rd %ile	≥ 97th %ile
Head circumference	≤ 2nd %ile	≥ 98th %ile
Interpupillary distance	≤ 3rd %ile	≥ 97th %ile
Inner canthal distance	≤ 3rd %ile	≥ 97th %ile
Palpebral fissure length	≤ 5th %ile	≥ 95th %ile
Philtrum length	≤ 3rd %ile	≥ 97th %ile
Ear length	≤ 3rd %ile	≥ 97th %ile
Middle finger length	≤ 3rd %ile	≥ 97th %ile
Palm length	≤ 3rd %ile	≥ 97th %ile
Total hand length	≤ 3rd %ile	≥ 97th %ile
Foot length	≤ 3rd %ile	≥ 97th %ile

Signature of Examiner

Signature of Classifying Clinician (genetics)

Signature of QC Supervisor (if applicable)

Skin Findings Classification System

 Hypopigmented macules

Count as dysmorphic if:

--the number is > to 5 OR

--the diameter of any one macule is >50 mm

Cafe-au-lait spots

Count as dysmorphic if:

--the number is >= to 6 or

--the diameter of any one spot is >50 mm

GENETICISTS – please fill out pages 8-9

1) CLASSIFYING CLINICIAN IMPRESSION – circle one (This is based on clinician’s Gestalt and is not based on any Miles classification system). Any suspected syndrome features should be listed under “List Features.”

DYSMORPHIC NONDYSMORPHIC

__________________________________________________________________________________________________________________________________________________________________________

2) Known Genetic Syndrome or Chromosome Abnormality?

NO YES If Yes, Specify:______________________________________

3) Major malformation present?

If Yes, check additional information box and list features under OLD Miles list.

NO YES □ Single major malformation

□ Multiple major malformations (>1)

4) OLD Miles ALGORITHM RESULTS

List Features:

Final Impression by GENETICIST

(Check one box below)

CLASSIFICATION

□ Normal – nondysmorphic (3 or less features)

□ Equivocal (4-5 features)

□ Abnormal – dysmorphic (6 or more features)

5) NEW Miles ALGORITHM RESULTS

Your decision flow must start at "ears" (pink box) and then proceed through a path until you reach "dysmorphic" or "non-dysmorphic." Circle your answers for each box that you choose. Your decision flow cannot start at "nose size," "nails" or "hair growth pattern." Your decision flow must follow until you reach "dysmorphic" or "non-dysmorphic" on the chart.

Appendix P

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