Table 3.
Medical features associated with FOXP1 syndrome
| 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%) |
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