Gender |
|
|
Male |
64.7% |
22/34 |
Female |
35.3% |
12/34 |
Indifferent |
0% |
0/34 |
Unknown |
0% |
0/34 |
Neurology |
|
|
Neurological abnormalities |
42.4% |
14/33 |
Seizures |
15.2% |
5/33 |
Global developmental delay |
6.1% |
2/33 |
Hyperreflexia |
6.1% |
2/33 |
Muscular hypotonia |
6.1% |
2/33 |
Tremor |
6.1% |
2/33 |
Ataxia |
3.0% |
1/33 |
Broad-based gait |
3.0% |
1/33 |
Delayed fine motor development |
3.0% |
1/33 |
Delayed gross motor development |
3.0% |
1/33 |
Demyelinating peripheral neuropathy |
3.0% |
1/33 |
Febrile seizures |
3.0% |
1/33 |
Gait ataxia |
3.0% |
1/33 |
Intellectual disability, borderline |
3.0% |
1/33 |
Neonatal hypotonia |
3.0% |
1/33 |
Specific learning disability |
3.0% |
1/33 |
Behavioral problems |
81.8% |
27/33 |
Short attention span |
33.3% |
11/33 |
Aggressive behavior |
24.2% |
8/33 |
Autistic behavior |
21.2% |
7/33 |
Stereotypic behavior |
21.2% |
7/33 |
Obsessive-compulsive trait |
18.2% |
6/33 |
Attention deficit hyperactivity disorder |
15.2% |
5/33 |
Autism |
6.1% |
2/33 |
Drooling |
6.1% |
2/33 |
Sleep disturbance |
6.1% |
2/33 |
Abnormal fear/anxiety-related behavior |
3.0% |
1/33 |
Anxiety |
3.0% |
1/33 |
Behavioral abnormality |
3.0% |
1/33 |
Impaired pain sensation |
3.0% |
1/33 |
Poor eye contact |
3.0% |
1/33 |
Self-mutilation |
3.0% |
1/33 |
Brain abnormality |
17.6% |
3/17 |
Abnormality of the subarachnoid space |
5.9% |
1/17 |
Aplasia/Hypoplasia of the corpus callosum |
5.9% |
1/17 |
Asymmetric ventricles |
5.9% |
1/17 |
Cavum septum pellucidum |
5.9% |
1/17 |
Partial agenesis of the corpus callosum |
5.9% |
1/17 |
Ventriculomegaly |
5.9% |
1/17 |
Facial abnormalities |
|
|
Abnormality of the ear |
35.5% |
11/31 |
Large earlobe |
6.5% |
2/31 |
Macrotia |
6.5% |
2/31 |
Overfolded helix |
6.5% |
2/31 |
Protruding ear |
6.5% |
2/31 |
Abnormality of the outer ear |
3.2% |
1/31 |
Abnormality of the crus of the helix |
3.2% |
1/31 |
Abnormal location of ears |
3.2% |
1/31 |
Abnormality of inferior crus of antihelix |
3.2% |
1/31 |
Cupped ear |
3.2% |
1/31 |
Microtia |
3.2% |
1/31 |
Prominent antihelix |
3.2% |
1/31 |
Abnormality of the eye |
54.8% |
17/31 |
Deeply set eye |
12.9% |
4/31 |
Highly arched eyebrow |
12.9% |
4/31 |
Hypertelorism |
9.7% |
3/31 |
Downslanted palpebral fissures |
6.5% |
2/31 |
Epicanthus |
6.5% |
2/31 |
Synophrys |
6.5% |
2/31 |
Upslanted palpebral fissure |
6.5% |
2/31 |
Hypotelorism |
3.2% |
1/31 |
Long eyelashes |
3.2% |
1/31 |
Long palpebral fissure |
3.2% |
1/31 |
Ptosis |
3.2% |
1/31 |
Sparse lateral eyebrow |
3.2% |
1/31 |
Telecanthus |
3.2% |
1/31 |
Thick eyebrow |
3.2% |
1/31 |
Upper eyelid edema |
3.2% |
1/31 |
Abnormality of the nose |
61.3% |
19/31 |
Anteverted nares |
12.9% |
4/31 |
Low hanging columella |
12.9% |
4/31 |
Depressed nasal bridge |
9.7% |
3/31 |
Abnormality of the external nose |
6.5% |
2/31 |
Bulbous nose |
6.5% |
2/31 |
Long nose |
6.5% |
2/31 |
Wide nasal bridge |
6.5% |
2/31 |
Abnormality of the nasal bridge |
3.2% |
1/31 |
Broad nasal tip |
3.2% |
1/31 |
Pear-shaped nose |
3.2% |
1/31 |
Prominent nasal bridge |
3.2% |
1/31 |
Prominent nose |
3.2% |
1/31 |
Short nose |
3.2% |
1/31 |
Triangular nasal tip |
3.2% |
1/31 |
Underdeveloped nasal alae |
3.2% |
1/31 |
Abnormality of the mouth |
67.7% |
21/31 |
Dental crowding |
22.6% |
7/31 |
High palate |
12.9% |
4/31 |
Wide mouth |
9.7% |
3/31 |
Exaggerated cupid's bow |
6.5% |
2/31 |
Failure of eruption of permanent teeth |
6.5% |
2/31 |
Retrognathia |
6.5% |
2/31 |
Thick lower lip vermilion |
6.5% |
2/31 |
Thick upper lip vermilion |
6.5% |
2/31 |
Thick vermilion border |
6.5% |
2/31 |
Thin upper lip vermilion |
6.5% |
2/31 |
Abnormality of upper lip vermillion |
3.2% |
1/31 |
Advanced eruption of teeth |
3.2% |
1/31 |
Ankyloglossia |
3.2% |
1/31 |
Delayed eruption of permanent teeth |
3.2% |
1/31 |
Delayed eruption of teeth |
3.2% |
1/31 |
Long philtrum |
3.2% |
1/31 |
Short philtrum |
3.2% |
1/31 |
Short lingual frenulum |
3.2% |
1/31 |
Tented upper lip vermilion |
3.2% |
1/31 |
Unilateral cleft lip |
3.2% |
1/31 |
Visual and hearing impairments |
|
|
Abnormal hearing |
5.9% |
2/34 |
Hyperacusis |
5.9% |
2/34 |
Abnormal vision |
11.8% |
4/34 |
Astigmatism |
2.9% |
1/34 |
Cortical visual impairment |
2.9% |
1/34 |
Hypermetropia |
2.9% |
1/34 |
Nasolacrimal duct obstruction |
2.9% |
1/34 |
Optic atrophy |
2.9% |
1/34 |
Pulmonary |
|
|
Abnormality of the lungs |
50.0% |
1/2 |
Recurrent respiratory infections |
50.0% |
1/2 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
83.3% |
25/30 |
Constipation |
33.3% |
10/30 |
Feeding difficulties in infancy |
33.3% |
10/30 |
Feeding difficulties |
23.3% |
7/30 |
Gastroesophageal reflux |
10.0% |
3/30 |
Episodic vomiting |
6.7% |
2/30 |
Abnormal eating behavior |
3.3% |
1/30 |
Anal fistula |
3.3% |
1/30 |
Chewing difficulties |
3.3% |
1/30 |
Dysphagia |
3.3% |
1/30 |
Failure to thrive |
3.3% |
1/30 |
Nasal regurgitation |
3.3% |
1/30 |
Vomiting |
3.3% |
1/30 |
Urogenital |
|
|
Abnormality of the urogenital system |
12.9% |
4/31 |
Urinary incontinence |
6.5% |
2/31 |
Phimosis |
3.2% |
1/31 |
Testicular torsion |
3.2% |
1/31 |
Skeleton |
|
|
Skeletal abnormalities |
71.9% |
23/32 |
Tapered finger |
31.3% |
10/32 |
Short finger |
25.0% |
8/32 |
Scoliosis |
18.8% |
6/32 |
Clinodactyly of the 5th finger |
12.5% |
4/32 |
Enlarged proximal interphalangeal joints |
12.5% |
4/32 |
2-3 toe syndactyly |
9.4% |
3/32 |
Kyphosis |
6.3% |
2/32 |
Pes planus |
6.3% |
2/32 |
Abnormality of the vertebrae |
3.1% |
1/32 |
Brachydactyly syndrome |
3.1% |
1/32 |
Hemiatrophy of lower limb |
3.1% |
1/32 |
Joint hypermobility |
3.1% |
1/32 |
Joint laxity |
3.1% |
1/32 |
Limited knee flexion |
3.1% |
1/32 |
Limited elbow extension and supination |
3.1% |
1/32 |
Lumbar scoliosis |
3.1% |
1/32 |
Narrow foot |
3.1% |
1/32 |
Overlapping toe |
3.1% |
1/32 |
Pectus excavatum |
3.1% |
1/32 |
Plagiocephaly |
3.1% |
1/32 |
Proximal placement of thumb |
3.1% |
1/32 |
Sandal gap |
3.1% |
1/32 |
Scapular winging |
3.1% |
1/32 |
Short thumb |
3.1% |
1/32 |
Short metacarpal |
3.1% |
1/32 |
Short toe |
3.1% |
1/32 |
Short foot |
3.1% |
1/32 |
Small hand |
3.1% |
1/32 |
Tapering pointed ends of distal finger phalanges |
3.1% |
1/32 |
Thoracic kyphoscoliosis |
3.1% |
1/32 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
23.5% |
8/34 |
Low anterior hairline |
5.9% |
2/34 |
Abnormality of the hairline |
2.9% |
1/34 |
Abnormality of hair growth rate |
2.9% |
1/34 |
Abnormality of the fingernails |
2.9% |
1/34 |
Absent fifth toenail |
2.9% |
1/34 |
Aplasia cutis congenita |
2.9% |
1/34 |
Dry skin |
2.9% |
1/34 |
Frontal upsweep of hair |
2.9% |
1/34 |
Hirsutism |
2.9% |
1/34 |
Hyperhidrosis |
2.9% |
1/34 |
Patchy alopecia |
2.9% |
1/34 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the metabolic system |
7.1% |
1/14 |
Hypercalcemia |
7.1% |
1/14 |