Table 1 Summary of phenotypes of CFC patients with BRAF, MAP2K1/2 variants

Craniofacial features

 Macrocephaly

HP: 0000256

10

5

15 (75%)

 Spare/curly hair

HP:0002212/HP:0008070

5

2

7 (35%)

 Epicanthus

HP: 0000286

6

7

13 (65%)

 Down-slanting palpebral fissure

HP: 0000494

4

4

8 (40%)

 Ptosis

HP: 0000508

1

2

3 (15%)

 Hypoplasia of eyebrow

HP: 0100840

11

5

16 (80%)

 Ulerythema ophryogenesis

ORPHA: 3406

2

3

5 (25%)

 Low-set ears

HP: 0000358

8

5

13 (65%)

 Wide nasal base/anteverted nares

HP: 0012810/HP: 0000463

10

7

17 (85%)

 Wide mouth

HP: 0000154

1

2

3 (15%)

Congenital heart defects

HP: 0001627

7

6

13 (65%)

 ASD

HP: 0001631

3

4

7 (35%)

 PFO

HP: 0001655

2

2

4 (20%)

 PVS

HP: 0001642

0

2

2 (10%)

 HCM

HP: 0001639

2

0

2 (10%)

Short stature

HP: 0004322

9

5

14 (70%)

GH therapy

–

2

2

4 (20%)

Mean SDS (range)

–

− 3.6 (-0.4 ~ -8.3)

− 2.1 (+ 0.5 ~ − 4.8)

− 3.0 (+ 0.5 ~ − 8.3)

Melanocytic nevi

HP: 0000995

8

4

12 (60%)

Keratosis pilaris

HP: 0032152

2

4

6 (30%)

Hemangioma

HP: 0001028

3

4

7 (35%)

Eczema

HP: 0000964

0

3

3 (15%)

Abnormal nail growth

HP: 0030807

5

5

10 (50%)

Pectus excavatum/carinatum

HP: 0000766

7

5

12 (60%)

Scoliosis

HP: 0002650

2

2

4 (20%)

Motor developmental delay

HP: 0031936

11

9

20 (100%)

Intellectual disability

HP: 0001249

7

5

12 (100%)*

Epilepsy

HP: 0001250

0

1

1 (5%)

Hypotonia

HP: 0001252

6

4

10 (50%)

Brain MRI abnormality

HP: 0012747

5

6

11 (55%)

Sleep disturbance

HP: 0002360

8

5

13 (65%)

Strabismus

HP: 0000486

4

4

8 (40%)

Hearing impairment

HP: 0000365

0

3

3 (15%)

Cryptorchidism

HP: 0000028

1

4

5 (25%)

Feeding difficulties

HP: 0011968

11

8

19 (95%)

Tumor

HP: 0002664

0

1

1 (5%)

Increased nuchal translucency

HP: 0010880

1

2

3 (15%)

Pemature birth

HP: 0001622

5

3

8 (40%)

Polyhydramnios

HP: 0001561

8

4

12 (60%)