| Gender |
|
|
| Male |
57.1% |
8/14 |
| Female |
42.9% |
6/14 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/1 |
| Birth Weight abnormalities |
36.4% |
4/11 |
| < P3 : Small for gestational age |
27.3% |
3/11 |
| > P98 : Large for gestational age |
9.1% |
1/11 |
| Birth Head circumference abnormalities |
0% |
0/2 |
| Current Height abnormalities |
63.6% |
7/11 |
| < P3 : Short stature |
63.6% |
7/11 |
| Current Weight abnormalities |
57.1% |
4/7 |
| > P98 : Increased body weight |
42.9% |
3/7 |
| < P3 : Decreased body weight |
14.3% |
1/7 |
| Current Head circumference abnormalities |
0% |
0/11 |
| Neurology |
|
|
| Neurological abnormalities |
69.2% |
9/13 |
| Feeding difficulties |
30.8% |
4/13 |
| Muscular hypotonia |
30.8% |
4/13 |
| Seizures |
23.1% |
3/13 |
| Dysphagia |
15.4% |
2/13 |
| Delayed social development |
7.7% |
1/13 |
| Hemiparesis |
7.7% |
1/13 |
| Limb hypertonia |
7.7% |
1/13 |
| Migraine |
7.7% |
1/13 |
| Nystagmus |
7.7% |
1/13 |
| Behavioral problems |
53.8% |
7/13 |
| Sleep disturbance |
30.8% |
4/13 |
| Attention deficit hyperactivity disorder |
23.1% |
3/13 |
| Autism |
23.1% |
3/13 |
| Abnormal aggressive, impulsive or violent behavior |
7.7% |
1/13 |
| Hyperactivity |
7.7% |
1/13 |
| Brain abnormality |
36.4% |
4/11 |
| Aplasia/Hypoplasia of the corpus callosum |
9.1% |
1/11 |
| Gliosis |
9.1% |
1/11 |
| Retrocerebellar cyst |
9.1% |
1/11 |
| Thick corpus callosum |
9.1% |
1/11 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
57.1% |
8/14 |
| Long ear |
57.1% |
8/14 |
| Low-set, posteriorly rotated ears |
7.1% |
1/14 |
| Abnormality of the eye |
85.7% |
12/14 |
| Downslanted palpebral fissures |
42.9% |
6/14 |
| Ptosis |
42.9% |
6/14 |
| Upslanted palpebral fissure |
28.6% |
4/14 |
| Strabismus |
14.3% |
2/14 |
| Almond-shaped palpebral fissure |
7.1% |
1/14 |
| Hypertelorism |
7.1% |
1/14 |
| Hypotelorism |
7.1% |
1/14 |
| Large eyes |
7.1% |
1/14 |
| Low-set, posteriorly rotated ears |
7.1% |
1/14 |
| Small palpebral fissure |
7.1% |
1/14 |
| Telecanthus |
7.1% |
1/14 |
| Abnormality of the nose |
100.0% |
14/14 |
| Prominent nasal tip |
92.9% |
13/14 |
| Low hanging columella |
42.9% |
6/14 |
| Prominent nasal bridge |
14.3% |
2/14 |
| Broad nasal tip |
7.1% |
1/14 |
| Depressed nasal bridge |
7.1% |
1/14 |
| Short nasal bridge |
7.1% |
1/14 |
| Abnormality of the mouth |
100.0% |
14/14 |
| Thin upper lip vermilion |
85.7% |
12/14 |
| Wide mouth |
85.7% |
12/14 |
| Abnormality of the palate |
7.1% |
1/14 |
| High palate |
7.1% |
1/14 |
| Long philtrum |
7.1% |
1/14 |
| Narrow mouth |
7.1% |
1/14 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
15.4% |
2/13 |
| Hearing impairment |
15.4% |
2/13 |
| Enlarged vestibular aqueduct |
7.7% |
1/13 |
| Abnormal vision |
15.4% |
2/13 |
| Astigmatism |
7.7% |
1/13 |
| Myopia |
7.7% |
1/13 |
| Visual impairment |
7.7% |
1/13 |
| Heart |
|
|
| Abnormality of the heart |
21.4% |
3/14 |
| Ventricular septal defect |
14.3% |
2/14 |
| Atria septal defect |
7.1% |
1/14 |
| Interrupted inferior vena cava with azygous continuation |
7.1% |
1/14 |
| Patent ductus arteriosus |
7.1% |
1/14 |
| Pulmonary hypertension |
7.1% |
1/14 |
| Pulmonary |
|
|
| Abnormality of the lungs |
100.0% |
1/1 |
| Asthma |
100.0% |
1/1 |
| Recurrent respiratory infections |
100.0% |
1/1 |
| Recurrent thromboembolism |
100.0% |
1/1 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
30.8% |
4/13 |
| Episodic vomiting |
15.4% |
2/13 |
| Duodenal atresia |
7.7% |
1/13 |
| Feeding difficulties |
7.7% |
1/13 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
7.7% |
1/13 |
| Hypospadias |
7.7% |
1/13 |
| Skeleton |
|
|
| Skeletal abnormalities |
57.1% |
8/14 |
| Joint hypermobility |
21.4% |
3/14 |
| Sandal gap |
21.4% |
3/14 |
| Clinodactyly of the 5th finger |
14.3% |
2/14 |
| Pes planus |
14.3% |
2/14 |
| Brachydactyly syndrome |
7.1% |
1/14 |
| Broad distal phalanx of the thumb |
7.1% |
1/14 |
| Clinodactyly of the 5th toe |
7.1% |
1/14 |
| Hip dysplasia |
7.1% |
1/14 |
| Long fingers |
7.1% |
1/14 |
| Scoliosis |
7.1% |
1/14 |
| Short finger |
7.1% |
1/14 |
| Short neck |
7.1% |
1/14 |
| Small hand |
7.1% |
1/14 |
| Tapered finger |
7.1% |
1/14 |
| Ulnar deviation of thumb |
7.1% |
1/14 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
23.1% |
3/13 |
| Abnormality of the teeth |
7.7% |
1/13 |
| Hypodontia |
7.7% |
1/13 |
| Hypopigmentation of hair |
7.7% |
1/13 |
| Sandal gap |
7.7% |
1/13 |
| Small finger |
7.7% |
1/13 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
21.4% |
3/14 |
| Congenital hypothyroidism |
7.1% |
1/14 |
| Growth hormone deficiency |
7.1% |
1/14 |
| Hypothyroidism |
7.1% |
1/14 |
| Vitamin D deficiency |
7.1% |
1/14 |
| Abnormality of the immune system |
7.7% |
1/13 |
| Recurrent urinary tract infections |
7.7% |
1/13 |
| Neoplasia |
|
|
| Neoplasia |
15.4% |
2/13 |
| Acute myeloid leukemia |
7.7% |
1/13 |
| Hodgkin lymphoma |
7.7% |
1/13 |