Characteristics

Dysmorphic features identified in the clinical genetic evaluation (N = 32). F=Estimated frequency from previous reports [50]. (a) defined as head circumference >97th percentile; (b)defined as height 95th percentile. Source: Molecular Autism, published online June 11, 2013.

Dysmorphic features

Large, fleshy hands

Bulbous nose

Long eyelashes

Ear anomalies

Hypoplastic/dysplastic nails

Full lips

Epicanthal folds

Macrocephaly (a)

Dolichocephaly

High arched palate

Hyperextensibility

Full cheeks

Periorbital fullness

Pointed chin

Abnormal spine curvature

Wide nasal bridge

Long philtrum

Sparse hair/abnormal whorl

Malocclusion/widely spaced teeth

Micrognathia

Hypertelorism

Short stature (b)

Sacral dimple

Syndactyly of toes 2 and 3

Malar hypoplasia

Fifth finger clinodactyly

Microcephaly (c)

Deep set eyes

Accelerated growth (d)

Flat midface

Ptosis

Low set ears

N

17

15

14

13

11

10

10

10

8

8

8

8

8

7

7

5

5

5

6

4

4

4

4

3

3

3

2

2

1

1

1

1

%

53

47

44

41

34

31

31

31

25

25

25

25

25

22

22

16

16

16

19

13

13

13

13

9

9

9

6

6

3

3

3

3

F

>50%

>50%

>50%

>50%

>50%

>25%

>50%

>25%

>50%

>50%

>50%

>50%

>25%

>25%

>50%

<14%

>50%

>50%

>25%

Medical comorbidities identified from clinical interviews and medical record reviews (n = 32). Source: Molecular Autism, published online June 11, 2013.

Medical comorbidity

Increased pain tolerance

Hypotonia

Recurring upper respiratory tract infections

Gastroesophageal reflux

Sleep disturbance

Seizures (febrile and/or non-febrile)

Constipation and/or diarrhea

Renal abnormalities

Lymphedema

Seasonal allergies

Food allergies

Asthma

Strabismus

Cardiac abnormalities

Hypothyroidism

Hypertrichosis

Vitiligo

N

28

24

17

14

13

13

12

12

7

6

5

3

2

1

1

1

1

%

88

75

53

44

41

41

38

38

22

19

16

9

6

3

3

3

3

F

>50%

>75%

>25%

>25%

>25%

>25%

>25%

>25%

Autism spectrum disorder and intelligence quotient diagnostic classifications. Source: Molecular Autism, published online June 11, 2013.

Consensus ASD diagnosis (n = 32)

Autism

Autism spectrum

Not ASD

Nonverbal IQ classification (n = 30)

Average (IQ 100–110)

Mild intellectual disability (IQ 50–55 to 70)

Moderate intellectual disability (IQ 35–40 to 50–55)

Severe intellectual disability (IQ 20–25 to 35–40)

Profound intellectual disability (IQ <20-25)

N

 

24

3

5

 

1

3

3

7

16

%

 

75

9.4

15.6

 

3.3

10

10

23.3

53.3

PMSF | Phelan-McDermid Syndrome Foundation