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Table 1 Detailed clinical features of our patient compared to the spectrum of clinical symptoms observed in patients with MFDM

From: A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Features

Our patient

All reported individuals

Estimated penetrance (%)

Craniofacial

 Micrognathia

Yes

87/89

98

 Small or dysplastic pinna(e)

Yes

84/87

97

 Malar hypoplasia

Yes

78/84

93

 Hearing loss

Yes

69/83

83

  Conductive

No

32/51

63

  Mixed

No

13/51

25

  Sensorineural

Yes

7/51

12

 Auditory atresia /stenosis

No

47/73

64

 Vestibular system abnormalities

No

14/25

56

 Ossicular abnormalities

No

8/15

53

 Facial asymmetry

No

25/47

53

 Preauricular tag(s)

No

45/86

52

 Cleft palate

No

41/88

47

 Choanal atresia

No

27/83

33

 Neonatal resuscitation

No

14/46

30

 Tracheostomy

No

10/50

20

 Limitation of mouth opening

Yes

7/85

8

Extracranial

 Thumb anomalies

No

24/77

31

 Heart defects

No

28/89

31

 Esophageal atresia

No

23/85

27

 Renal malformation

No

9/85

10

Development

 Developmental delay

Yes

83/83

100

 Microcephaly

Yes

78/89

88

  Congenital

No

34/53

64

  Postnatal

Yes

19/53

36

 Epileptic seizures

Yes

21/77

27