PHYSICAL EXAMINATION

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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
□ 
□ 
□  
□ 
□
□
□
□
□
□
□
□
□
□
□
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□
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□  
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□
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□□□□
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□
□
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
□
□
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□
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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
□ 
□  
□ 
□
□ 
□ 
□  
□ 
□
□
□ 

  
□ 
□
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□ 

  
□ 
□□ 
□ 
□  
□ 
□□
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.) 

						         
							
	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:
									
																																																																																										













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.