| Gender |
|
|
| Male |
54.3% |
19/35 |
| Female |
45.7% |
16/35 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/35 |
| Birth Weight abnormalities |
11.4% |
4/35 |
| < P3 : Small for gestational age |
8.6% |
3/35 |
| > P98 : Large for gestational age |
2.9% |
1/35 |
| Birth Head circumference abnormalities |
2.9% |
1/35 |
| < P3 : Congenital microcephaly |
2.9% |
1/35 |
| Current Height abnormalities |
5.7% |
2/35 |
| > P98 : Tall stature |
5.7% |
2/35 |
| Current Weight abnormalities |
17.1% |
6/35 |
| > P98 : Increased body weight |
5.7% |
2/35 |
| < P3 : Decreased body weight |
11.4% |
4/35 |
| Current Head circumference abnormalities |
8.6% |
3/35 |
| < P3 : Microcephaly |
2.9% |
1/35 |
| > P98 : Macrocephaly |
5.7% |
2/35 |
| Neurology |
|
|
| Neurological abnormalities |
62.5% |
20/32 |
| Muscular hypotonia |
46.9% |
15/32 |
| Seizures |
9.4% |
3/32 |
| Abnormal muscle tone |
6.3% |
2/32 |
| Abnormality of coordination |
3.1% |
1/32 |
| Hypertonia |
3.1% |
1/32 |
| Infantile spasms |
3.1% |
1/32 |
| Severe muscular hypotonia |
3.1% |
1/32 |
| Torticollis |
3.1% |
1/32 |
| Behavioral problems |
84.4% |
27/32 |
| Autism |
34.4% |
11/32 |
| Attention deficit hyperactivity disorder |
28.1% |
9/32 |
| Anxiety |
21.9% |
7/32 |
| Aggressive behavior |
15.6% |
5/32 |
| Tics |
12.5% |
4/32 |
| Irritability |
9.4% |
3/32 |
| Psychosis |
9.4% |
3/32 |
| Short attention span |
9.4% |
3/32 |
| Sleep disturbance |
9.4% |
3/32 |
| Specific learning disability |
9.4% |
3/32 |
| Depression |
6.3% |
2/32 |
| Low frustration tolerance |
6.3% |
2/32 |
| Abnormal social behavior |
3.1% |
1/32 |
| Autism with high cognitive abilities |
3.1% |
1/32 |
| Autistic behavior |
3.1% |
1/32 |
| Behavioral abnormality |
3.1% |
1/32 |
| Bipolar affective disorder |
3.1% |
1/32 |
| Diminished movement |
3.1% |
1/32 |
| Dyscalculia |
3.1% |
1/32 |
| Emotional lability |
3.1% |
1/32 |
| Mood swings |
3.1% |
1/32 |
| Mutism |
3.1% |
1/32 |
| Nasal, dysarthic speech |
3.1% |
1/32 |
| Oppositional defiant disorder |
3.1% |
1/32 |
| Oral aversion |
3.1% |
1/32 |
| Schizophrenia |
3.1% |
1/32 |
| Self-injurious behavior |
3.1% |
1/32 |
| Stereotypic behavior |
3.1% |
1/32 |
| Brain abnormality |
50.0% |
7/14 |
| Abnormality of the cerebellar vermis |
14.3% |
2/14 |
| Abnormality of brain morphology |
7.1% |
1/14 |
| Abnormal myelination |
7.1% |
1/14 |
| Abnormality of the corpus callosum |
7.1% |
1/14 |
| Cerebellar dysplasia |
7.1% |
1/14 |
| Global brain atrophy |
7.1% |
1/14 |
| Hypoplasia of the brainstem |
7.1% |
1/14 |
| Molar tooth sign on MRI |
7.1% |
1/14 |
| Pachygyria |
7.1% |
1/14 |
| Pineal cyst |
7.1% |
1/14 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
22.9% |
8/35 |
| Low-set ears |
11.4% |
4/35 |
| Posteriorly rotated ears |
5.7% |
2/35 |
| Abnormality of the tragus |
2.9% |
1/35 |
| Large earlobe |
2.9% |
1/35 |
| Preauricular skin tag |
2.9% |
1/35 |
| Protruding ear |
2.9% |
1/35 |
| Small earlobe |
2.9% |
1/35 |
| Abnormality of the eye |
74.3% |
26/35 |
| Downslanted palpebral fissures |
20.0% |
7/35 |
| Epicanthus |
20.0% |
7/35 |
| Hypertelorism |
17.1% |
6/35 |
| Deeply set eye |
11.4% |
4/35 |
| Long palpebral fissure |
5.7% |
2/35 |
| Periorbital fullness |
5.7% |
2/35 |
| Ptosis |
5.7% |
2/35 |
| Small palpebral fissure |
5.7% |
2/35 |
| Upslanted palpebral fissure |
5.7% |
2/35 |
| Bilateral ptosis |
2.9% |
1/35 |
| Blue sclerae |
2.9% |
1/35 |
| Infra-orbital crease |
2.9% |
1/35 |
| Proptosis |
2.9% |
1/35 |
| Telecanthus |
2.9% |
1/35 |
| Unilateral ptosis |
2.9% |
1/35 |
| Upper eyelid edema |
2.9% |
1/35 |
| Abnormality of the nose |
45.7% |
16/35 |
| Long nose |
11.4% |
4/35 |
| Bulbous nose |
8.6% |
3/35 |
| Wide nose |
8.6% |
3/35 |
| Low hanging columella |
5.7% |
2/35 |
| Narrow nose |
5.7% |
2/35 |
| Proboscis |
5.7% |
2/35 |
| Wide nasal bridge |
5.7% |
2/35 |
| Anteverted nares |
2.9% |
1/35 |
| Broad nasal tip |
2.9% |
1/35 |
| Depressed nasal bridge |
2.9% |
1/35 |
| Large beaked nose |
2.9% |
1/35 |
| Narrow nasal bridge |
2.9% |
1/35 |
| Prominent nasal bridge |
2.9% |
1/35 |
| Prominent nasal tip |
2.9% |
1/35 |
| Short columella |
2.9% |
1/35 |
| Abnormality of the mouth |
71.4% |
25/35 |
| High palate |
22.9% |
8/35 |
| Mandibular prognathia |
11.4% |
4/35 |
| Thin upper lip vermilion |
11.4% |
4/35 |
| Thick vermilion border |
8.6% |
3/35 |
| Wide mouth |
8.6% |
3/35 |
| Ankyloglossia |
5.7% |
2/35 |
| Dental crowding |
5.7% |
2/35 |
| Everted lower lip vermilion |
5.7% |
2/35 |
| Microretrognathia |
5.7% |
2/35 |
| Open mouth |
5.7% |
2/35 |
| Retrognathia |
5.7% |
2/35 |
| Abnormality of the uvula |
2.9% |
1/35 |
| Amelogenesis imperfecta |
2.9% |
1/35 |
| Bifid tongue |
2.9% |
1/35 |
| Cleft palate |
2.9% |
1/35 |
| Dental malocclusion |
2.9% |
1/35 |
| Lobulated tongue |
2.9% |
1/35 |
| Microdontia |
2.9% |
1/35 |
| Misalignment of incisors |
2.9% |
1/35 |
| Narrow palate |
2.9% |
1/35 |
| Narrow mouth |
2.9% |
1/35 |
| Oral cleft |
2.9% |
1/35 |
| Short lingual frenulum |
2.9% |
1/35 |
| Tented upper lip vermilion |
2.9% |
1/35 |
| Thick lower lip vermilion |
2.9% |
1/35 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
15.2% |
5/33 |
| Atresia of the external auditory canal |
3.0% |
1/33 |
| Bilateral sensorineural hearing impairment |
3.0% |
1/33 |
| Bilateral conductive hearing impairment |
3.0% |
1/33 |
| Conductive hearing impairment |
3.0% |
1/33 |
| Glue ear |
3.0% |
1/33 |
| Hearing impairment |
3.0% |
1/33 |
| Phonophobia |
3.0% |
1/33 |
| Tinnitus |
3.0% |
1/33 |
| Abnormal vision |
44.1% |
15/34 |
| Myopia |
26.5% |
9/34 |
| Hypermetropia |
8.8% |
3/34 |
| Strabismus |
8.8% |
3/34 |
| Astigmatism |
2.9% |
1/34 |
| Cataract |
2.9% |
1/34 |
| Esotropia |
2.9% |
1/34 |
| Rod-cone dystrophy |
2.9% |
1/34 |
| Heart |
|
|
| Abnormality of the heart |
14.7% |
5/34 |
| Dilated cardiomyopathy |
2.9% |
1/34 |
| Mitral regurgitation |
2.9% |
1/34 |
| Mitral valve prolapse |
2.9% |
1/34 |
| Patent ductus arteriosus after birth at term |
2.9% |
1/34 |
| Persistent fetal circulation |
2.9% |
1/34 |
| Sinus of Valsalva aneurysm |
2.9% |
1/34 |
| Pulmonary |
|
|
| Abnormality of the lungs |
50.0% |
1/2 |
| Sinusitis |
50.0% |
1/2 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
17.6% |
6/34 |
| Gastroesophageal reflux |
11.8% |
4/34 |
| Chronic colitis |
2.9% |
1/34 |
| Chronic diarrhea |
2.9% |
1/34 |
| Chronic constipation |
2.9% |
1/34 |
| Constipation |
2.9% |
1/34 |
| Vomiting |
2.9% |
1/34 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
17.6% |
6/34 |
| Cryptorchidism |
2.9% |
1/34 |
| Glandular hypospadias |
2.9% |
1/34 |
| Hydronephrosis |
2.9% |
1/34 |
| Hydroureter |
2.9% |
1/34 |
| Menorrhagia |
2.9% |
1/34 |
| Menstrual irregularities |
2.9% |
1/34 |
| Micropenis |
2.9% |
1/34 |
| Neurogenic bladder |
2.9% |
1/34 |
| Urinary urgency |
2.9% |
1/34 |
| Urinary incontinence |
2.9% |
1/34 |
| Skeleton |
|
|
| Skeletal abnormalities |
67.6% |
23/34 |
| Joint hypermobility |
26.5% |
9/34 |
| Pectus excavatum |
14.7% |
5/34 |
| Arachnodactyly |
8.8% |
3/34 |
| Scoliosis |
8.8% |
3/34 |
| Arthralgia |
5.9% |
2/34 |
| Elbow flexion contracture |
5.9% |
2/34 |
| Long fingers |
5.9% |
2/34 |
| Long toe |
5.9% |
2/34 |
| Pectus carinatum |
5.9% |
2/34 |
| Sandal gap |
5.9% |
2/34 |
| Abnormality of the sternum |
2.9% |
1/34 |
| Abnormality of the shoulder |
2.9% |
1/34 |
| Abnormality of the hip joint |
2.9% |
1/34 |
| Abnormal joint morphology |
2.9% |
1/34 |
| Abnormality of the thorax |
2.9% |
1/34 |
| Abnormality of the knees |
2.9% |
1/34 |
| Accelerated skeletal maturation |
2.9% |
1/34 |
| Back pain |
2.9% |
1/34 |
| Broad thumb |
2.9% |
1/34 |
| Clinodactyly |
2.9% |
1/34 |
| Clinodactyly of the 5th finger |
2.9% |
1/34 |
| Congenital hip dislocation |
2.9% |
1/34 |
| Equinus calcaneus |
2.9% |
1/34 |
| Fractures of the long bones |
2.9% |
1/34 |
| Hip dysplasia |
2.9% |
1/34 |
| Intervertebral disc degeneration |
2.9% |
1/34 |
| Kyphoscoliosis |
2.9% |
1/34 |
| Long foot |
2.9% |
1/34 |
| Lower limb pain |
2.9% |
1/34 |
| Osteomalacia |
2.9% |
1/34 |
| Overlapping toe |
2.9% |
1/34 |
| Pes planus |
2.9% |
1/34 |
| Preaxial hand polydactyly |
2.9% |
1/34 |
| Slender build |
2.9% |
1/34 |
| Slender finger |
2.9% |
1/34 |
| Slender toe |
2.9% |
1/34 |
| Talipes equinovarus |
2.9% |
1/34 |
| Tapered finger |
2.9% |
1/34 |
| Type C brachydactyly |
2.9% |
1/34 |
| 2-3 toe syndactyly |
2.9% |
1/34 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
35.3% |
12/34 |
| Prominent fingertip pads |
8.8% |
3/34 |
| Few cafe-au-lait spots |
5.9% |
2/34 |
| Abnormal hair whorl |
2.9% |
1/34 |
| Abnormality of the nail |
2.9% |
1/34 |
| Cafe-au-lait spot |
2.9% |
1/34 |
| Camptodactyly |
2.9% |
1/34 |
| Dry skin |
2.9% |
1/34 |
| Facial erythema |
2.9% |
1/34 |
| Hemangioma |
2.9% |
1/34 |
| Hypertrichosis |
2.9% |
1/34 |
| Localized skin lesion |
2.9% |
1/34 |
| Onychogryposis of toenails |
2.9% |
1/34 |
| Paronychia |
2.9% |
1/34 |
| Sacral dimple |
2.9% |
1/34 |
| Soft skin |
2.9% |
1/34 |
| Sparse eyebrow |
2.9% |
1/34 |
| Sparse hair |
2.9% |
1/34 |
| Webbed neck |
2.9% |
1/34 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
11.8% |
4/34 |
| Hyperthyroidism |
2.9% |
1/34 |
| Hypogonadotrophic hypogonadism |
2.9% |
1/34 |
| Hypothyroidism |
2.9% |
1/34 |
| Vitamin B12 deficiency |
2.9% |
1/34 |
| Abnormality of the immune system |
5.9% |
2/34 |
| Recurrent urinary tract infections |
5.9% |
2/34 |
| Chronic otitis media |
2.9% |
1/34 |
| Recurrent bronchitis |
2.9% |
1/34 |