Gender |
|
|
Male |
42.3% |
11/26 |
Female |
57.7% |
15/26 |
Indifferent |
0% |
0/26 |
Unknown |
0% |
0/26 |
General |
|
|
Birth Length abnormalities |
4.0% |
1/25 |
> P98 : Birth length greater than 97th percentile |
4.0% |
1/25 |
Birth Weight abnormalities |
11.5% |
3/26 |
> P98 : Large for gestational age |
7.7% |
2/26 |
< P3 : Small for gestational age |
3.8% |
1/26 |
Birth Head circumference abnormalities |
3.8% |
1/26 |
< P3 : Congenital microcephaly |
3.8% |
1/26 |
Current Height abnormalities |
26.9% |
7/26 |
< P3 : Short stature |
23.1% |
6/26 |
> P98 : Tall stature |
3.8% |
1/26 |
Current Weight abnormalities |
26.9% |
7/26 |
> P98 : Increased body weight |
23.1% |
6/26 |
< P3 : Decreased body weight |
3.8% |
1/26 |
Current Head circumference abnormalities |
23.1% |
6/26 |
> P98 : Macrocephaly |
19.2% |
5/26 |
< P3 : Microcephaly |
3.8% |
1/26 |
Neurology |
|
|
Neurological abnormalities |
92.3% |
24/26 |
Muscular hypotonia |
53.8% |
14/26 |
Oral motor hypotonia |
26.9% |
7/26 |
Neurodevelopmental delay |
15.4% |
4/26 |
Seizures |
15.4% |
4/26 |
Abnormality of coordination |
3.8% |
1/26 |
Cataplexy |
3.8% |
1/26 |
Clumsiness |
3.8% |
1/26 |
EEG abnormality |
3.8% |
1/26 |
Expressive language delay |
3.8% |
1/26 |
Generalized hypotonia |
3.8% |
1/26 |
Hyporeflexia |
3.8% |
1/26 |
Muscular hypotonia of the trunk |
3.8% |
1/26 |
Speech articulation difficulties |
3.8% |
1/26 |
Behavioral problems |
87.5% |
21/24 |
Attention deficit hyperactivity disorder |
37.5% |
9/24 |
Anxiety |
33.3% |
8/24 |
Sleep disturbance |
33.3% |
8/24 |
Autism |
16.7% |
4/24 |
Self-injurious behavior |
8.3% |
2/24 |
Abnormal aggressive, impulsive or violent behavior |
4.2% |
1/24 |
Aggressive behavior |
4.2% |
1/24 |
Agitation |
4.2% |
1/24 |
Autistic behavior |
4.2% |
1/24 |
Hyperactivity |
4.2% |
1/24 |
Impaired social interactions |
4.2% |
1/24 |
Irritability |
4.2% |
1/24 |
Poor eye contact |
4.2% |
1/24 |
Brain abnormality |
33.3% |
7/21 |
Ventriculomegaly |
9.5% |
2/21 |
Abnormality of nervous system morphology |
4.8% |
1/21 |
Abnormality of brain morphology |
4.8% |
1/21 |
Arachnoid cyst |
4.8% |
1/21 |
Enlarged cisterna magna |
4.8% |
1/21 |
Morphological abnormality of the central nervous system |
4.8% |
1/21 |
Widened subarachnoid space |
4.8% |
1/21 |
Facial abnormalities |
|
|
Abnormality of the ear |
47.8% |
11/23 |
Posteriorly rotated ears |
17.4% |
4/23 |
Prominent antihelix |
17.4% |
4/23 |
Abnormality of the outer ear |
8.7% |
2/23 |
Abnormality of the helix |
8.7% |
2/23 |
Low-set ears |
8.7% |
2/23 |
Preauricular pit |
8.7% |
2/23 |
Preauricular skin tag |
4.3% |
1/23 |
Stenosis of the external auditory canal |
4.3% |
1/23 |
Abnormality of the eye |
100.0% |
24/24 |
Deeply set eye |
41.7% |
10/24 |
Strabismus |
33.3% |
8/24 |
Hypertelorism |
25.0% |
6/24 |
Long palpebral fissure |
25.0% |
6/24 |
Epicanthus |
20.8% |
5/24 |
Downslanted palpebral fissures |
16.7% |
4/24 |
Ptosis |
16.7% |
4/24 |
Long eyelashes |
12.5% |
3/24 |
Bilateral ptosis |
4.2% |
1/24 |
Horizontal eyebrow |
4.2% |
1/24 |
Lacrimal duct stenosis |
4.2% |
1/24 |
Orbital cyst |
4.2% |
1/24 |
Telecanthus |
4.2% |
1/24 |
Abnormality of the nose |
65.2% |
15/23 |
Abnormality of the nasal bridge |
43.5% |
10/23 |
Bulbous nose |
43.5% |
10/23 |
Anteverted nares |
13.0% |
3/23 |
Depressed nasal bridge |
4.3% |
1/23 |
Flared nostrils |
4.3% |
1/23 |
Abnormality of the mouth |
73.9% |
17/23 |
Wide mouth |
39.1% |
9/23 |
Thin upper lip vermilion |
21.7% |
5/23 |
Abnormality of the teeth |
8.7% |
2/23 |
Downturned corners of mouth |
8.7% |
2/23 |
High palate |
8.7% |
2/23 |
Long philtrum |
8.7% |
2/23 |
Thick vermilion border |
8.7% |
2/23 |
Abnormality of the gingiva |
4.3% |
1/23 |
Ankyloglossia |
4.3% |
1/23 |
Bifid tongue |
4.3% |
1/23 |
Cleft palate |
4.3% |
1/23 |
Dental crowding |
4.3% |
1/23 |
Macroglossia |
4.3% |
1/23 |
Macrodontia |
4.3% |
1/23 |
Protruding tongue |
4.3% |
1/23 |
Thick lower lip vermilion |
4.3% |
1/23 |
Visual and hearing impairments |
|
|
Abnormal hearing |
16.7% |
4/24 |
Bilateral sensorineural hearing impairment |
4.2% |
1/24 |
Hearing abnormality |
4.2% |
1/24 |
Hyperacusis |
4.2% |
1/24 |
Unilateral conductive hearing impairment |
4.2% |
1/24 |
Abnormal vision |
56.5% |
13/23 |
Strabismus |
34.8% |
8/23 |
Myopia |
17.4% |
4/23 |
Astigmatism |
13.0% |
3/23 |
Hypermetropia |
8.7% |
2/23 |
Reduced visual acuity |
8.7% |
2/23 |
Amblyopia |
4.3% |
1/23 |
Cortical visual impairment |
4.3% |
1/23 |
Hyperopic astigmatism |
4.3% |
1/23 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
58.3% |
14/24 |
Feeding difficulties |
37.5% |
9/24 |
Constipation |
25.0% |
6/24 |
Gastroesophageal reflux |
12.5% |
3/24 |
Chronic constipation |
8.3% |
2/24 |
Abdominal symptom |
4.2% |
1/24 |
Bowel incontinence |
4.2% |
1/24 |
Dysphagia |
4.2% |
1/24 |
Hiatus hernia |
4.2% |
1/24 |
Urogenital |
|
|
Abnormality of the urogenital system |
27.3% |
6/22 |
Abnormality of the kidney |
4.5% |
1/22 |
Enuresis nocturna |
4.5% |
1/22 |
Hydronephrosis |
4.5% |
1/22 |
Pelvic kidney |
4.5% |
1/22 |
Phimosis |
4.5% |
1/22 |
Ureter duplex |
4.5% |
1/22 |
Skeleton |
|
|
Skeletal abnormalities |
75.0% |
18/24 |
Short digit |
29.2% |
7/24 |
Pes planus |
25.0% |
6/24 |
Tapered finger |
20.8% |
5/24 |
Valgus foot deformity |
20.8% |
5/24 |
Brachycephaly |
12.5% |
3/24 |
Short toe |
12.5% |
3/24 |
Wide anterior fontanel |
12.5% |
3/24 |
Sandal gap |
8.3% |
2/24 |
Short foot |
8.3% |
2/24 |
Aplasia/Hypoplasia of fingers |
4.2% |
1/24 |
Brachydactyly syndrome |
4.2% |
1/24 |
Broad finger |
4.2% |
1/24 |
Broad thumb |
4.2% |
1/24 |
Broad hallux |
4.2% |
1/24 |
Clinodactyly of the 5th finger |
4.2% |
1/24 |
Cutaneous finger syndactyly |
4.2% |
1/24 |
Delayed cranial suture closure |
4.2% |
1/24 |
Ectopic accessory finger-like appendage |
4.2% |
1/24 |
Finger clinodactyly |
4.2% |
1/24 |
Hallux valgus |
4.2% |
1/24 |
Hip dysplasia |
4.2% |
1/24 |
Kyphosis |
4.2% |
1/24 |
Limitation of movement at ankles |
4.2% |
1/24 |
Plagiocephaly |
4.2% |
1/24 |
Short 5th metacarpal |
4.2% |
1/24 |
Small hand |
4.2% |
1/24 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
40.9% |
9/22 |
Hirsutism |
18.2% |
4/22 |
Hyperkeratosis pilaris |
9.1% |
2/22 |
Low posterior hairline |
9.1% |
2/22 |
Aplasia/Hypoplasia of the nails |
4.5% |
1/22 |
Generalized hirsutism |
4.5% |
1/22 |
Hypertrichosis |
4.5% |
1/22 |
Sparse hair |
4.5% |
1/22 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
13.6% |
3/22 |
Growth hormone deficiency |
9.1% |
2/22 |
Delayed puberty |
4.5% |
1/22 |
Abnormality of the metabolic system |
17.4% |
4/23 |
Abnormality of mitochondrial metabolism |
4.3% |
1/23 |
Hypoglycemia |
4.3% |
1/23 |
Mildly elevated creatine phosphokinase |
4.3% |
1/23 |
Mucopolysacchariduria |
4.3% |
1/23 |
Abnormality of the immune system |
9.1% |
2/22 |
IgG deficiency |
4.5% |
1/22 |
Leukopenia |
4.5% |
1/22 |