Gender |
|
|
Male |
60.8% |
31/51 |
Female |
39.2% |
20/51 |
Indifferent |
0% |
0/51 |
Unknown |
0% |
0/51 |
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 fine motor development |
2.1% |
1/47 |
Delayed gross 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 the subarachnoid space |
3.4% |
1/29 |
Abnormality of lateral ventricle |
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 inferior crus of antihelix |
2.4% |
1/41 |
Abnormality of the outer ear |
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 nose |
4.8% |
2/42 |
Prominent nasal bridge |
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 upper lip vermilion |
6.8% |
3/44 |
Thick lower 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 |
Gastroesophageal reflux |
6.7% |
3/45 |
Gastrostomy tube feeding in infancy |
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 elbow extension and supination |
2.2% |
1/45 |
Limited knee flexion |
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 hairline |
2.4% |
1/42 |
Abnormality of the fingernails |
2.4% |
1/42 |
Abnormality of hair growth rate |
2.4% |
1/42 |
Abnormality of the breast |
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 |