| Gender |
|
|
| Male |
60.8% |
31/51 |
| Female |
39.2% |
20/51 |
| General |
|
|
| Birth Length abnormalities |
2.0% |
1/50 |
| > P98 : Birth length greater than 97th percentile |
2.0% |
1/50 |
| Birth Weight abnormalities |
0% |
0/50 |
| Birth Head circumference abnormalities |
0% |
0/50 |
| Current Height abnormalities |
18.0% |
9/50 |
| < P3 : Short stature |
16.0% |
8/50 |
| > P98 : Tall stature |
2.0% |
1/50 |
| Current Weight abnormalities |
38.0% |
19/50 |
| > P98 : Increased body weight |
10.0% |
5/50 |
| < P3 : Decreased body weight |
28.0% |
14/50 |
| Current Head circumference abnormalities |
68.0% |
34/50 |
| < P3 : Microcephaly |
44.0% |
22/50 |
| > P98 : Macrocephaly |
24.0% |
12/50 |
| Neurology |
|
|
| Neurological abnormalities |
51.1% |
24/47 |
| Seizures |
19.1% |
9/47 |
| Generalized hypotonia |
6.4% |
3/47 |
| Tremor |
6.4% |
3/47 |
| Global developmental delay |
4.3% |
2/47 |
| Hyperreflexia |
4.3% |
2/47 |
| Muscular hypotonia |
4.3% |
2/47 |
| Absence seizures |
2.1% |
1/47 |
| Ataxia |
2.1% |
1/47 |
| Brisk reflexes |
2.1% |
1/47 |
| Broad-based gait |
2.1% |
1/47 |
| Delayed gross motor development |
2.1% |
1/47 |
| Delayed fine motor development |
2.1% |
1/47 |
| Demyelinating peripheral neuropathy |
2.1% |
1/47 |
| Dystonia |
2.1% |
1/47 |
| Febrile seizures |
2.1% |
1/47 |
| Gait ataxia |
2.1% |
1/47 |
| Generalized myoclonic seizures |
2.1% |
1/47 |
| Hallucinations |
2.1% |
1/47 |
| Intellectual disability, borderline |
2.1% |
1/47 |
| Migraine |
2.1% |
1/47 |
| Neonatal hypotonia |
2.1% |
1/47 |
| Sleep disturbance |
2.1% |
1/47 |
| Specific learning disability |
2.1% |
1/47 |
| Toe walking |
2.1% |
1/47 |
| Behavioral problems |
87.8% |
43/49 |
| Short attention span |
42.9% |
21/49 |
| Aggressive behavior |
28.6% |
14/49 |
| Stereotypic behavior |
24.5% |
12/49 |
| Autistic behavior |
14.3% |
7/49 |
| Severe global developmental delay |
14.3% |
7/49 |
| Attention deficit hyperactivity disorder |
12.2% |
6/49 |
| Autism |
12.2% |
6/49 |
| Obsessive-compulsive trait |
12.2% |
6/49 |
| Mild global developmental delay |
8.2% |
4/49 |
| Moderate global developmental delay |
8.2% |
4/49 |
| Obsessive-compulsive behavior |
8.2% |
4/49 |
| Anxiety |
4.1% |
2/49 |
| Drooling |
4.1% |
2/49 |
| Sleep disturbance |
4.1% |
2/49 |
| Abnormal fear/anxiety-related behavior |
2.0% |
1/49 |
| Behavioral abnormality |
2.0% |
1/49 |
| Bipolar affective disorder |
2.0% |
1/49 |
| Clumsiness |
2.0% |
1/49 |
| Global developmental delay |
2.0% |
1/49 |
| Hyperactivity |
2.0% |
1/49 |
| Impaired pain sensation |
2.0% |
1/49 |
| Poor eye contact |
2.0% |
1/49 |
| Self-mutilation |
2.0% |
1/49 |
| Brain abnormality |
27.6% |
8/29 |
| Hypoplasia of the corpus callosum |
6.9% |
2/29 |
| Abnormality of lateral ventricle |
3.4% |
1/29 |
| Abnormality of the subarachnoid space |
3.4% |
1/29 |
| Abnormality of the basal ganglia |
3.4% |
1/29 |
| Aplasia/Hypoplasia of the corpus callosum |
3.4% |
1/29 |
| Asymmetric ventricles |
3.4% |
1/29 |
| Cavum septum pellucidum |
3.4% |
1/29 |
| Delayed CNS myelination |
3.4% |
1/29 |
| Gliosis |
3.4% |
1/29 |
| Intraventricular hemorrhage |
3.4% |
1/29 |
| Partial agenesis of the corpus callosum |
3.4% |
1/29 |
| Progressive leukoencephalopathy |
3.4% |
1/29 |
| Ventriculomegaly |
3.4% |
1/29 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
51.2% |
21/41 |
| Low-set ears |
14.6% |
6/41 |
| Macrotia |
9.8% |
4/41 |
| Abnormality of the crus of the helix |
4.9% |
2/41 |
| Large earlobe |
4.9% |
2/41 |
| Overfolded helix |
4.9% |
2/41 |
| Protruding ear |
4.9% |
2/41 |
| Abnormality of the outer ear |
2.4% |
1/41 |
| Abnormality of inferior crus of antihelix |
2.4% |
1/41 |
| Abnormal location of ears |
2.4% |
1/41 |
| Cupped ear |
2.4% |
1/41 |
| Large fleshy ears |
2.4% |
1/41 |
| Microtia |
2.4% |
1/41 |
| Prominent antihelix |
2.4% |
1/41 |
| Abnormality of the eye |
60.5% |
23/38 |
| Deeply set eye |
10.5% |
4/38 |
| Downslanted palpebral fissures |
10.5% |
4/38 |
| Highly arched eyebrow |
10.5% |
4/38 |
| Hypertelorism |
10.5% |
4/38 |
| Upslanted palpebral fissure |
7.9% |
3/38 |
| Epicanthus |
5.3% |
2/38 |
| Synophrys |
5.3% |
2/38 |
| Hypotelorism |
2.6% |
1/38 |
| Large eyes |
2.6% |
1/38 |
| Long palpebral fissure |
2.6% |
1/38 |
| Long eyelashes |
2.6% |
1/38 |
| Prominent epicanthal folds |
2.6% |
1/38 |
| Ptosis |
2.6% |
1/38 |
| Sparse lateral eyebrow |
2.6% |
1/38 |
| Strabismus |
2.6% |
1/38 |
| Telecanthus |
2.6% |
1/38 |
| Thick eyebrow |
2.6% |
1/38 |
| Upper eyelid edema |
2.6% |
1/38 |
| Abnormality of the nose |
71.4% |
30/42 |
| Bulbous nose |
21.4% |
9/42 |
| Long nose |
11.9% |
5/42 |
| Anteverted nares |
9.5% |
4/42 |
| Low hanging columella |
9.5% |
4/42 |
| Depressed nasal bridge |
7.1% |
3/42 |
| Abnormality of the external nose |
4.8% |
2/42 |
| Broad nasal tip |
4.8% |
2/42 |
| Prominent nasal bridge |
4.8% |
2/42 |
| Prominent nose |
4.8% |
2/42 |
| Short nose |
4.8% |
2/42 |
| Wide nasal bridge |
4.8% |
2/42 |
| Abnormality of the nasal bridge |
2.4% |
1/42 |
| Nasolacrimal duct obstruction |
2.4% |
1/42 |
| Pear-shaped nose |
2.4% |
1/42 |
| Triangular nasal tip |
2.4% |
1/42 |
| Underdeveloped nasal alae |
2.4% |
1/42 |
| Wide nose |
2.4% |
1/42 |
| Abnormality of the mouth |
77.3% |
34/44 |
| Dental crowding |
22.7% |
10/44 |
| Thin upper lip vermilion |
18.2% |
8/44 |
| High palate |
9.1% |
4/44 |
| Delayed eruption of permanent teeth |
6.8% |
3/44 |
| Exaggerated cupid's bow |
6.8% |
3/44 |
| Thick lower lip vermilion |
6.8% |
3/44 |
| Thick upper lip vermilion |
6.8% |
3/44 |
| Wide mouth |
6.8% |
3/44 |
| Abnormality of upper lip vermillion |
4.5% |
2/44 |
| Abnormality of upper lip |
4.5% |
2/44 |
| Failure of eruption of permanent teeth |
4.5% |
2/44 |
| Macrodontia of permanent maxillary central incisor |
4.5% |
2/44 |
| Retrognathia |
4.5% |
2/44 |
| Short lingual frenulum |
4.5% |
2/44 |
| Thick vermilion border |
4.5% |
2/44 |
| Unilateral cleft lip |
4.5% |
2/44 |
| Abnormality of dental enamel |
2.3% |
1/44 |
| Advanced eruption of teeth |
2.3% |
1/44 |
| Agenesis of molar |
2.3% |
1/44 |
| Ankyloglossia |
2.3% |
1/44 |
| Carious teeth |
2.3% |
1/44 |
| Delayed eruption of teeth |
2.3% |
1/44 |
| Long philtrum |
2.3% |
1/44 |
| Macrodontia |
2.3% |
1/44 |
| Microdontia |
2.3% |
1/44 |
| Open mouth |
2.3% |
1/44 |
| Short philtrum |
2.3% |
1/44 |
| Tented upper lip vermilion |
2.3% |
1/44 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
5.7% |
2/35 |
| Hyperacusis |
5.7% |
2/35 |
| Abnormal vision |
11.4% |
4/35 |
| Astigmatism |
2.9% |
1/35 |
| Cortical visual impairment |
2.9% |
1/35 |
| Hypermetropia |
2.9% |
1/35 |
| Nasolacrimal duct obstruction |
2.9% |
1/35 |
| Optic atrophy |
2.9% |
1/35 |
| Heart |
|
|
| Abnormality of the heart |
8.9% |
4/45 |
| Aortic root dilatation |
2.2% |
1/45 |
| Aortic regurgitation |
2.2% |
1/45 |
| Arrhythmia |
2.2% |
1/45 |
| Atria septal defect |
2.2% |
1/45 |
| Bicuspid aortic valve |
2.2% |
1/45 |
| Tetralogy of Fallot |
2.2% |
1/45 |
| Pulmonary |
|
|
| Abnormality of the lungs |
6.3% |
1/16 |
| Recurrent respiratory infections |
6.3% |
1/16 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
82.2% |
37/45 |
| Constipation |
40.0% |
18/45 |
| Feeding difficulties in infancy |
35.6% |
16/45 |
| Feeding difficulties |
20.0% |
9/45 |
| Gastrostomy tube feeding in infancy |
6.7% |
3/45 |
| Gastroesophageal reflux |
6.7% |
3/45 |
| Episodic vomiting |
4.4% |
2/45 |
| Abnormal eating behavior |
2.2% |
1/45 |
| Anal fistula |
2.2% |
1/45 |
| Chewing difficulties |
2.2% |
1/45 |
| Dysphagia |
2.2% |
1/45 |
| Esophagitis |
2.2% |
1/45 |
| Failure to thrive |
2.2% |
1/45 |
| Intestinal malrotation |
2.2% |
1/45 |
| Nasal regurgitation |
2.2% |
1/45 |
| Poor suck |
2.2% |
1/45 |
| Vomiting |
2.2% |
1/45 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
11.1% |
5/45 |
| Urinary incontinence |
4.4% |
2/45 |
| Neurogenic bladder |
2.2% |
1/45 |
| Phimosis |
2.2% |
1/45 |
| Testicular torsion |
2.2% |
1/45 |
| Skeleton |
|
|
| Skeletal abnormalities |
73.3% |
33/45 |
| Tapered finger |
33.3% |
15/45 |
| Short finger |
28.9% |
13/45 |
| Scoliosis |
20.0% |
9/45 |
| Clinodactyly of the 5th finger |
8.9% |
4/45 |
| Enlarged proximal interphalangeal joints |
8.9% |
4/45 |
| 2-3 toe syndactyly |
8.9% |
4/45 |
| Kyphosis |
6.7% |
3/45 |
| Pes planus |
6.7% |
3/45 |
| Brachydactyly syndrome |
4.4% |
2/45 |
| Joint hypermobility |
4.4% |
2/45 |
| Short toe |
4.4% |
2/45 |
| Abnormality of the vertebrae |
2.2% |
1/45 |
| Clubbing of toes |
2.2% |
1/45 |
| Hemiatrophy of lower limb |
2.2% |
1/45 |
| Joint laxity |
2.2% |
1/45 |
| Limb dystonia |
2.2% |
1/45 |
| Limited knee flexion |
2.2% |
1/45 |
| Limited elbow extension and supination |
2.2% |
1/45 |
| Lumbar scoliosis |
2.2% |
1/45 |
| Narrow foot |
2.2% |
1/45 |
| Overlapping toe |
2.2% |
1/45 |
| Pectus excavatum |
2.2% |
1/45 |
| Pes cavus |
2.2% |
1/45 |
| Plagiocephaly |
2.2% |
1/45 |
| Proximal placement of thumb |
2.2% |
1/45 |
| Sandal gap |
2.2% |
1/45 |
| Scapular winging |
2.2% |
1/45 |
| Short thumb |
2.2% |
1/45 |
| Short metacarpal |
2.2% |
1/45 |
| Short foot |
2.2% |
1/45 |
| Small hand |
2.2% |
1/45 |
| Tapering pointed ends of distal finger phalanges |
2.2% |
1/45 |
| Thoracic kyphoscoliosis |
2.2% |
1/45 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
28.6% |
12/42 |
| Low anterior hairline |
4.8% |
2/42 |
| Supernumerary nipple |
4.8% |
2/42 |
| Abnormality of the breast |
2.4% |
1/42 |
| Abnormality of the fingernails |
2.4% |
1/42 |
| Abnormality of the hairline |
2.4% |
1/42 |
| Abnormality of hair growth rate |
2.4% |
1/42 |
| Absent fifth toenail |
2.4% |
1/42 |
| Aplasia cutis congenita |
2.4% |
1/42 |
| Dry skin |
2.4% |
1/42 |
| Frontal upsweep of hair |
2.4% |
1/42 |
| Hirsutism |
2.4% |
1/42 |
| Hyperhidrosis |
2.4% |
1/42 |
| Inverted nipples |
2.4% |
1/42 |
| Multiple cafe-au-lait spots |
2.4% |
1/42 |
| Patchy alopecia |
2.4% |
1/42 |
| Short nail |
2.4% |
1/42 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
11.1% |
2/18 |
| Hypothyroidism |
11.1% |
2/18 |
| Abnormality of the metabolic system |
6.3% |
1/16 |
| Hypercalcemia |
6.3% |
1/16 |
| Abnormality of the immune system |
5.9% |
1/17 |
| Urticaria |
5.9% |
1/17 |