| Gender |
|
|
| Male |
53.5% |
23/43 |
| Female |
46.5% |
20/43 |
| General |
|
|
| Birth Length abnormalities |
14.0% |
6/43 |
| < P3 : Birth length less than 3rd percentile |
14.0% |
6/43 |
| Birth Weight abnormalities |
9.3% |
4/43 |
| < P3 : Small for gestational age |
9.3% |
4/43 |
| Birth Head circumference abnormalities |
2.3% |
1/43 |
| < P3 : Congenital microcephaly |
2.3% |
1/43 |
| Current Height abnormalities |
7.0% |
3/43 |
| < P3 : Short stature |
7.0% |
3/43 |
| Current Weight abnormalities |
4.7% |
2/43 |
| < P3 : Decreased body weight |
4.7% |
2/43 |
| Current Head circumference abnormalities |
4.7% |
2/43 |
| > P98 : Macrocephaly |
2.3% |
1/43 |
| < P3 : Microcephaly |
2.3% |
1/43 |
| Neurology |
|
|
| Neurological abnormalities |
37.1% |
13/35 |
| Muscular hypotonia |
14.3% |
5/35 |
| Seizures |
14.3% |
5/35 |
| Sleep apnea |
5.7% |
2/35 |
| Abnormality of the optic nerve |
2.9% |
1/35 |
| Generalized tonic-clonic seizures |
2.9% |
1/35 |
| Migraine |
2.9% |
1/35 |
| Obstructive sleep apnea |
2.9% |
1/35 |
| Optic nerve hypoplasia |
2.9% |
1/35 |
| Tremor |
2.9% |
1/35 |
| Behavioral problems |
67.6% |
23/34 |
| Autism |
26.5% |
9/34 |
| Behavioral abnormality |
11.8% |
4/34 |
| Attention deficit hyperactivity disorder |
8.8% |
3/34 |
| Autistic behavior |
8.8% |
3/34 |
| Stereotypic behavior |
8.8% |
3/34 |
| Anxiety |
5.9% |
2/34 |
| Hyperactivity |
5.9% |
2/34 |
| Poor eye contact |
5.9% |
2/34 |
| Shyness |
5.9% |
2/34 |
| Echolalia |
2.9% |
1/34 |
| Low frustration tolerance |
2.9% |
1/34 |
| Paranoia |
2.9% |
1/34 |
| Brain abnormality |
25.0% |
3/12 |
| Pineal cyst |
16.7% |
2/12 |
| Abnormality of the cerebral white matter |
8.3% |
1/12 |
| Cerebral hypomyelination |
8.3% |
1/12 |
| Cerebral atrophy |
8.3% |
1/12 |
| Periventricular gray matter heterotopia |
8.3% |
1/12 |
| Ventriculomegaly |
8.3% |
1/12 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
71.0% |
22/31 |
| Low-set, posteriorly rotated ears |
29.0% |
9/31 |
| Low-set ears |
22.6% |
7/31 |
| Abnormality of the outer ear |
16.1% |
5/31 |
| Small earlobe |
6.5% |
2/31 |
| Abnormality of earlobe |
3.2% |
1/31 |
| Aplasia/Hypoplasia of the external ear |
3.2% |
1/31 |
| Bilateral sensorineural hearing impairment |
3.2% |
1/31 |
| Microtia |
3.2% |
1/31 |
| Morphological abnormality of the anterior semicircular canal |
3.2% |
1/31 |
| Posteriorly rotated ears |
3.2% |
1/31 |
| Uplifted earlobe |
3.2% |
1/31 |
| Abnormality of the eye |
61.5% |
8/13 |
| Hypertelorism |
38.5% |
5/13 |
| Congenital strabismus |
7.7% |
1/13 |
| Downslanted palpebral fissures |
7.7% |
1/13 |
| Exotropia |
7.7% |
1/13 |
| Horizontal nystagmus |
7.7% |
1/13 |
| Nystagmus |
7.7% |
1/13 |
| Ptosis |
7.7% |
1/13 |
| Abnormality of the nose |
41.7% |
5/12 |
| Large beaked nose |
16.7% |
2/12 |
| Bulbous nose |
8.3% |
1/12 |
| Low hanging columella |
8.3% |
1/12 |
| Prominent nose |
8.3% |
1/12 |
| Wide nasal bridge |
8.3% |
1/12 |
| Abnormality of the mouth |
50.0% |
7/14 |
| Abnormality of the mandible |
21.4% |
3/14 |
| Microretrognathia |
14.3% |
2/14 |
| Narrow mouth |
14.3% |
2/14 |
| Short philtrum |
14.3% |
2/14 |
| Absent cupid's bow |
7.1% |
1/14 |
| Downturned corners of mouth |
7.1% |
1/14 |
| High palate |
7.1% |
1/14 |
| Hypoplasia of dental enamel |
7.1% |
1/14 |
| Long philtrum |
7.1% |
1/14 |
| Micrognathia |
7.1% |
1/14 |
| Retrognathia |
7.1% |
1/14 |
| Smooth philtrum |
7.1% |
1/14 |
| Thin upper lip vermilion |
7.1% |
1/14 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
13.3% |
4/30 |
| Hearing impairment |
10.0% |
3/30 |
| Bilateral sensorineural hearing impairment |
3.3% |
1/30 |
| Abnormal vision |
50.0% |
18/36 |
| Strabismus |
19.4% |
7/36 |
| Amblyopia |
5.6% |
2/36 |
| Astigmatism |
5.6% |
2/36 |
| Iris coloboma |
5.6% |
2/36 |
| Myopia |
5.6% |
2/36 |
| Abnormal conjugate eye movement |
2.8% |
1/36 |
| Anisometropia |
2.8% |
1/36 |
| Anisocoria |
2.8% |
1/36 |
| Coloboma |
2.8% |
1/36 |
| Corneal opacity |
2.8% |
1/36 |
| Cortical visual impairment |
2.8% |
1/36 |
| Hypermetropia |
2.8% |
1/36 |
| Impaired smooth pursuit |
2.8% |
1/36 |
| Peters anomaly |
2.8% |
1/36 |
| Ptosis |
2.8% |
1/36 |
| Heart |
|
|
| Abnormality of the heart |
35.7% |
15/42 |
| Patent ductus arteriosus |
14.3% |
6/42 |
| Atria septal defect |
9.5% |
4/42 |
| Ventricular septal defect |
7.1% |
3/42 |
| Abnormality of the cardiovascular system |
4.8% |
2/42 |
| Bicuspid aortic valve |
4.8% |
2/42 |
| Aortic dilatation |
2.4% |
1/42 |
| Coarctation of aorta |
2.4% |
1/42 |
| Dysplastic pulmonary valve |
2.4% |
1/42 |
| Heart murmur |
2.4% |
1/42 |
| Hypertension |
2.4% |
1/42 |
| Hypoplastic tricuspid valve |
2.4% |
1/42 |
| Left ventricular noncompaction cardiomyopathy |
2.4% |
1/42 |
| Muscular ventricular septal defect |
2.4% |
1/42 |
| Partial anomalous pulmonary venous return |
2.4% |
1/42 |
| Patent foramen ovale |
2.4% |
1/42 |
| Persistent patent ductus venosus |
2.4% |
1/42 |
| Primum atrial septal defect |
2.4% |
1/42 |
| Tetralogy of Fallot |
2.4% |
1/42 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
21.2% |
7/33 |
| Feeding difficulties |
12.1% |
4/33 |
| Constipation |
9.1% |
3/33 |
| Gastroesophageal reflux |
6.1% |
2/33 |
| Feeding difficulties in infancy |
3.0% |
1/33 |
| Oral aversion |
3.0% |
1/33 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
56.1% |
23/41 |
| Hypospadias |
12.2% |
5/41 |
| Abnormality of the kidney |
9.8% |
4/41 |
| Horseshoe kidney |
9.8% |
4/41 |
| Micropenis |
9.8% |
4/41 |
| Hydronephrosis |
7.3% |
3/41 |
| Precocious puberty |
7.3% |
3/41 |
| Abnormality of male external genitalia |
4.9% |
2/41 |
| Cryptorchidism |
4.9% |
2/41 |
| Ectopic kidney |
4.9% |
2/41 |
| Unilateral renal agenesis |
4.9% |
2/41 |
| Abnormality of the renal pelvis |
2.4% |
1/41 |
| Abnormal renal morphology |
2.4% |
1/41 |
| Bilateral fetal pyelectasis |
2.4% |
1/41 |
| Fetal pyelectasis |
2.4% |
1/41 |
| Neurogenic bladder |
2.4% |
1/41 |
| Puberty and gonadal disorders |
2.4% |
1/41 |
| Renal hypoplasia |
2.4% |
1/41 |
| Shawl scrotum |
2.4% |
1/41 |
| Ureteral duplication |
2.4% |
1/41 |
| Urinary retention |
2.4% |
1/41 |
| Urinary incontinence |
2.4% |
1/41 |
| Vesicoureteral reflux |
2.4% |
1/41 |
| Skeleton |
|
|
| Skeletal abnormalities |
54.5% |
18/33 |
| Short thumb |
15.2% |
5/33 |
| 2-3 toe syndactyly |
12.1% |
4/33 |
| Abnormality of the lower limb |
9.1% |
3/33 |
| Sacral dimple |
9.1% |
3/33 |
| Sandal gap |
9.1% |
3/33 |
| 2-3 toe cutaneous syndactyly |
9.1% |
3/33 |
| Clinodactyly of the 5th finger |
6.1% |
2/33 |
| Abnormality of the upper limb |
3.0% |
1/33 |
| Abnormality of the thumb |
3.0% |
1/33 |
| Absent thumb |
3.0% |
1/33 |
| Adducted thumb |
3.0% |
1/33 |
| Aplasia/Hypoplasia of the thumb |
3.0% |
1/33 |
| Brachydactyly syndrome |
3.0% |
1/33 |
| Clinodactyly of the 4th finger |
3.0% |
1/33 |
| Clubbing of fingers |
3.0% |
1/33 |
| Clubbing of toes |
3.0% |
1/33 |
| Enlarged epiphyses of the hallux |
3.0% |
1/33 |
| Finger joint hypermobility |
3.0% |
1/33 |
| Hand polydactyly |
3.0% |
1/33 |
| Hip dysplasia |
3.0% |
1/33 |
| Metatarsus adductus |
3.0% |
1/33 |
| Missing ribs |
3.0% |
1/33 |
| Proximal placement of thumb |
3.0% |
1/33 |
| Scoliosis |
3.0% |
1/33 |
| Short sternum |
3.0% |
1/33 |
| Short stature |
3.0% |
1/33 |
| Syndactyly |
3.0% |
1/33 |
| Tapered finger |
3.0% |
1/33 |
| Triangular shaped phalanges of the hand |
3.0% |
1/33 |
| Wide anterior fontanel |
3.0% |
1/33 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
32.0% |
8/25 |
| Acrocyanosis |
8.0% |
2/25 |
| Cutis marmorata |
8.0% |
2/25 |
| Abnormality of the nipple |
4.0% |
1/25 |
| Aplasia cutis congenita over the scalp vertex |
4.0% |
1/25 |
| Fragile nails |
4.0% |
1/25 |
| Striae distensae |
4.0% |
1/25 |
| Vascular skin abnormality |
4.0% |
1/25 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
11.1% |
1/9 |
| Central hypothyroidism |
11.1% |
1/9 |
| Abnormality of the immune system |
11.1% |
1/9 |
| Recurrent urinary tract infections |
11.1% |
1/9 |
| Neoplasia |
|
|
| Neoplasia |
4.8% |
2/42 |
| Lymphangioma |
2.4% |
1/42 |
| Neoplasm of the ear |
2.4% |
1/42 |