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Table 3 Medical features associated with FOXP1 syndrome

From: FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Medical Features

Pariani et al. [9]

Hamdan et al. [10]

Horn et al. [14]

Carr et al. [15]

Ţuţulan-Cunită et al. [16]

Palumbo et al. [17]

Fevre et al. [18]

Lloveras et al. [19]

Dimitrov et al. [20]

Song et al. [21]

Sollis et al. [22]

Sollis et al. [23]

Siper et al. [24]

Meerschaut et al. [11]

Myers et al. [25]

Johnson et al. [26]

Yamamoto et al [27].

Vuillaume et al. [28]

Urreizti et al. [30]

Mutlu-Albayrak et al. [29]

Total (%)

Neurology

 Spinal defects

-

-

-

-

1/1

-

-

-

-

-

-

-

1/9

2/23

-

-

-

-

-

-

2/60 (3%)

 Hypertonia/muscle spasms

1/1

-

-

1/1

-

-

-

-

3/3

-

-

-

-

14/21

-

-

-

-

1/1

-

20/58 (34%)

 Abnormal reflexes

-

-

-

1/1

1/1

-

-

-

3/3

-

-

-

-

-

-

-

-

-

-

-

5/60 (8%)

 Spastic/contractures

1/1

-

-

-

1/1

-

-

-

3/3

-

-

-

-

10/19

-

-

-

-

1/1

-

16/56 (29%)

 Seizures

-

-

-

1/1

-

-

-

-

1/3

-

-

1/3

0/9

3/22

-

-

-

1/1

-

-

7/59 (12%)

 Brain abnormalities

1/1 (a)

-

-

1/1 (b)

1/1 (c)

-

1/1 (d)

-

3/3 (e)

-

-

1/2 (f)

6/7 (g)

11/23 (h)

-

1/1 (i)

1/3 (j)

1/1 (k)

-

1/1 (l)

29/58 (50%)

 Abnormal EEG

-

-

-

1/1

-

1/1

-

-

-

-

-

-

2/4

-

-

-

-

-

-

-

4/55 (7%)

Endocrinology

 Short stature

1/1

-

-

-

-

-

-

-

3/3

1/2

-

-

-

-

-

-

3/3

-

-

-

8/60 (13%)

 Obesity

-

-

2/3

-

-

-

-

-

-

-

-

-

1/9

-

-

-

-

-

-

-

3/60 (5%)

 Hypothyroidism

-

-

-

-

-

-

-

-

-

-

-

-

1/9

-

-

-

-

-

-

1/3

2/60 (3%)

 Diabetes

-

-

-

-

-

-

-

-

-

-

-

-

1/9

-

-

-

-

-

-

-

1/60 (2%)

Cardiac

 Congenital heart defect

-

-

-

-

1/1 (i)

-

-

1/1 (ii)

3/3 (iii)

-

-

-

2/9 (iv)

9/19 (v)

-

-

1/3 (vi)

-

-

-

17/56 (30%)

Nephrology/urology

 Renal abnormalities

-

-

-

-

-

-

-

-

-

-

-

-

-

1/9 (HK)

-

1/1 (HK)

-

-

1/1 (HK)

-

3/46 (7%)

 Micropenis

-

-

-

-

1/1

-

-

-

1/3

-

-

1/3

-

-

-

-

-

-

-

-

3/41 (7%)

 Cryptorchidism

1/1

-

-

-

1/1

-

-

-

1/3

-

-

2/3

-

-

-

1/1

1/3

-

1/3

1/3

9/41 (22%)

Ophthalmology

 Visual refractive error

1/1

-

1/3

-

-

-

-

-

-

-

1/2

3/3

5/9

17/21

-

-

-

-

1/1

-

29/58 (50%)

 Strabismus

-

-

-

-

1/1

-

-

-

-

-

1/2

3/3

5/9

-

-

-

-

-

-

1/1

11/60 (18%)

 Other eye abnormalities

-

-

-

-

-

-

-

-

1/3

-

-

1/3

-

-

-

-

1/3

-

-

-

3/60 (5%)

Other medical problems

 Recurrent infections (ear)

-

-

-

-

-

-

-

-

-

-

-

1/3

6/9

-

-

-

-

-

-

-

7/60 (12%)

 Hypoacusis, hearing loss

-

-

-

-

1/1

-

-

-

1/3

-

-

-

1/9

2/11

-

-

3/3

-

-

-

8/48 (17%)

 Recurrent upper respiratory tract infections

-

-

-

-

-

-

-

-

2/3

-

-

-

4/9

-

1/1

-

-

-

-

-

7/60 (12%)

 Neuroendocrine hyperplasia of infancy

-

-

-

-

-

-

-

-

-

-

-

-

1/9

-

-

-

-

-

-

-

1/60 (2%)

 Pulmonary hypertension

-

-

-

-

-

-

-

-

2/3

-

-

-

1/9

-

-

-

1/3

-

-

-

4/60 (7%)

 Obstructive sleep apnea

1/1

-

-

-

-

-

-

-

1/3

-

-

-

-

-

-

-

-

-

-

-

2/60 (3%)

 Asthma

-

-

-

-

-

-

1/1

-

-

-

-

-

-

-

-

-

-

-

-

-

1/60 (2%)

 Gut atresia

-

1/2

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

1/60 (2%)

 Constipation

-

-

-

-

-

-

-

-

-

-

-

-

4/9

-

1/1

-

-

-

-

-

5/60 (8%)

 Skin infections

-

-

-

-

-

-

-

-

-

-

-

-

2/9

-

-

-

-

-

-

-

2/60 (3%)

 Allergies

-

-

-

-

-

-

-

-

-

-

-

-

2/9

-

-

-

-

-

-

-

2/60 (3%)

 Iron deficiency

-

-

-

-

-

-

-

-

-

-

-

-

2/9

-

-

-

-

-

-

-

2/60 (3%)

 Sleep issues

-

-

-

-

-

-

-

-

-

-

-

1/3

-

-

-

-

1/3

1/1

-

-

3/60 (5%)

 Congenital hip dislocation

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

1/3

-

-

1/1

2/60 (3%)

  1. a mild asymmetric enlargement of the ventricles and sulci and minor atrophy; b Chiari I malformation (herniation of the cerebellar tonsils through the foramen magnum), hypoplasia of the cerebellar vermis, and dysmorphic corpus collosum; c left cerebellum subarachnoid cyst, large cisterna magna, moderate frontal atrophy, and bilateral sclerosis of inner ear bone chain; d prominent ventricles; e enlarged ventricles, heterotypic nodule and loss of white matter volume, polymicrogyria, fronto-central schizogyria, hypoplastic corpus callosum, and loss of white matter volume; f mild widening of extracerebral space; g mildly dilated lateral ventricles; non-enhancing subcortical and deep white matter abnormalities; venous angioma in left frontal lobe; prominent Virchow-Robin spaces; small partial cavum septum pellucidum anteriorly; mild diffuse periventricular leukomalacia; arachnoid cysts (cerebellum, left hemisphere); enlarged ventricles; h cerebral and/or cerebellar atrophy, cortical, subcortical and deep white matter abnormalities, and/or cerebellar abnormalities; i mega cisterna magna; j enlarged lateral ventricles; k periventricular heterotopia; l mega cisterna magna; i ASD; ii PDA; iii ASD, PDA, PS; iv PDA, PS, PFO; v ASD, PDA, PS; vi PDA; vii ASD, PDA; ASD atrial septal defect; EEG electroencephalogram; HK horseshoe kidney; PDA patent ductus arteriosus; PFO patent foramen ovale; PS pulmonary stenosis; “-” absent or not reported
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Journal of Neurodevelopmental Disorders

ISSN: 1866-1955

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