| Gender |
|
|
| Male |
58.3% |
7/12 |
| Female |
41.7% |
5/12 |
| Indifferent |
0% |
0/12 |
| Unknown |
0% |
0/12 |
| General |
|
|
| Birth Length abnormalities |
16.7% |
2/12 |
| < P3 : Birth length less than 3rd percentile |
16.7% |
2/12 |
| Birth Weight abnormalities |
16.7% |
2/12 |
| < P3 : Small for gestational age |
16.7% |
2/12 |
| Birth Head circumference abnormalities |
8.3% |
1/12 |
| < P3 : Primary microcephaly |
8.3% |
1/12 |
| Current Height abnormalities |
8.3% |
1/12 |
| < P3 : Short stature |
8.3% |
1/12 |
| Current Weight abnormalities |
33.3% |
4/12 |
| < P3 : Decreased body weight |
16.7% |
2/12 |
| > P98 : Increased body weight |
16.7% |
2/12 |
| Current Head circumference abnormalities |
16.7% |
2/12 |
| < P3 : Microcephaly |
8.3% |
1/12 |
| > P98 : Macrocephaly |
8.3% |
1/12 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
10/10 |
| Generalized hypotonia |
70.0% |
7/10 |
| Failure to thrive |
20.0% |
2/10 |
| Abnormality of the musculature of the upper limbs |
10.0% |
1/10 |
| Autism |
10.0% |
1/10 |
| Bilateral tonic-clonic seizure |
10.0% |
1/10 |
| Febrile seizure (within the age range of 3 months to 6 years) |
10.0% |
1/10 |
| Frequent falls |
10.0% |
1/10 |
| Gait ataxia |
10.0% |
1/10 |
| Language impairment |
10.0% |
1/10 |
| Spasticity |
10.0% |
1/10 |
| Behavioral problems |
100.0% |
5/5 |
| Abnormal sexual behavior |
20.0% |
1/5 |
| Aggressive behavior |
20.0% |
1/5 |
| Attention deficit hyperactivity disorder |
20.0% |
1/5 |
| Autistic behavior |
20.0% |
1/5 |
| Hyperactivity |
20.0% |
1/5 |
| Impulsivity |
20.0% |
1/5 |
| obsolete Mood swings |
20.0% |
1/5 |
| Short attention span |
20.0% |
1/5 |
| Sleep disturbance |
20.0% |
1/5 |
| Brain abnormality |
57.1% |
4/7 |
| Abnormal cerebral white matter morphology |
28.6% |
2/7 |
| Abnormal cerebellar vermis morphology |
14.3% |
1/7 |
| Abnormal corpus callosum morphology |
14.3% |
1/7 |
| Abnormal lateral ventricle morphology |
14.3% |
1/7 |
| Abnormal left ventricle morphology |
14.3% |
1/7 |
| Abnormal brainstem morphology |
14.3% |
1/7 |
| Occipital cortical atrophy |
14.3% |
1/7 |
| Retrocerebellar cyst |
14.3% |
1/7 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
100.0% |
9/9 |
| Low-set ears |
66.7% |
6/9 |
| Cupped ear |
11.1% |
1/9 |
| Hypoplastic helices |
11.1% |
1/9 |
| Large earlobe |
11.1% |
1/9 |
| Macrotia |
11.1% |
1/9 |
| Microtia |
11.1% |
1/9 |
| obsolete Low-set, posteriorly rotated ears |
11.1% |
1/9 |
| Posteriorly rotated ears |
11.1% |
1/9 |
| Abnormality of the eye |
100.0% |
12/12 |
| Abnormality of the eye |
108.3% |
13/12 |
| Upslanted palpebral fissure |
75.0% |
9/12 |
| Deeply set eye |
50.0% |
6/12 |
| Long eyelashes |
41.7% |
5/12 |
| Strabismus |
33.3% |
4/12 |
| Abnormal eyebrow morphology |
25.0% |
3/12 |
| obsolete Sparse and thin eyebrow |
25.0% |
3/12 |
| Thick eyebrow |
25.0% |
3/12 |
| Hypertelorism |
16.7% |
2/12 |
| Synophrys |
16.7% |
2/12 |
| Blepharophimosis |
8.3% |
1/12 |
| Downslanted palpebral fissures |
8.3% |
1/12 |
| Exotropia |
8.3% |
1/12 |
| Highly arched eyebrow |
8.3% |
1/12 |
| Hypotelorism |
8.3% |
1/12 |
| Short palpebral fissure |
8.3% |
1/12 |
| Abnormality of the nose |
100.0% |
10/10 |
| Anteverted nares |
60.0% |
6/10 |
| Triangular nasal tip |
50.0% |
5/10 |
| Abnormal nasal bridge morphology |
20.0% |
2/10 |
| Low hanging columella |
20.0% |
2/10 |
| Abnormal columella morphology |
10.0% |
1/10 |
| Abnormal morphology of the nasal alae |
10.0% |
1/10 |
| Depressed nasal bridge |
10.0% |
1/10 |
| Flared nostrils |
10.0% |
1/10 |
| Prominent nose |
10.0% |
1/10 |
| Short nose |
10.0% |
1/10 |
| Short columella |
10.0% |
1/10 |
| Wide nasal base |
10.0% |
1/10 |
| Abnormality of the mouth |
100.0% |
12/12 |
| Micrognathia |
66.7% |
8/12 |
| Thin upper lip vermilion |
33.3% |
4/12 |
| Smooth philtrum |
25.0% |
3/12 |
| Wide mouth |
25.0% |
3/12 |
| Downturned corners of mouth |
16.7% |
2/12 |
| High palate |
16.7% |
2/12 |
| Long philtrum |
16.7% |
2/12 |
| Tooth malposition |
16.7% |
2/12 |
| Absent cupid's bow |
8.3% |
1/12 |
| Cleft palate |
8.3% |
1/12 |
| Dental malocclusion |
8.3% |
1/12 |
| Mandibular prognathia |
8.3% |
1/12 |
| Oligodontia |
8.3% |
1/12 |
| Open bite |
8.3% |
1/12 |
| Thin lower lip vermilion |
8.3% |
1/12 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
100.0% |
1/1 |
| Sensorineural hearing impairment |
100.0% |
1/1 |
| Abnormal vision |
66.7% |
2/3 |
| Hypertelorism |
33.3% |
1/3 |
| Hyperopic astigmatism |
33.3% |
1/3 |
| Heart |
|
|
| Abnormality of the heart |
100.0% |
3/3 |
| Abnormal aortic valve morphology |
33.3% |
1/3 |
| Aortic regurgitation |
33.3% |
1/3 |
| Pulmonic stenosis |
33.3% |
1/3 |
| Pulmonary |
|
|
| Abnormality of the lungs |
100.0% |
3/3 |
| Bronchiolitis |
33.3% |
1/3 |
| Pulmonic stenosis |
33.3% |
1/3 |
| Recurrent respiratory infections |
33.3% |
1/3 |
| Sleep apnea |
33.3% |
1/3 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
100.0% |
4/4 |
| Abnormality of the genitourinary system |
25.0% |
1/4 |
| Gastroesophageal reflux |
25.0% |
1/4 |
| Pyelonephritis |
25.0% |
1/4 |
| Urinary bladder sphincter dysfunction |
25.0% |
1/4 |
| Vomiting |
25.0% |
1/4 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
100.0% |
2/2 |
| Abnormal renal corticomedullary differentiation |
50.0% |
1/2 |
| Hyperechogenic kidneys |
50.0% |
1/2 |
| Renal insufficiency |
50.0% |
1/2 |
| Renal cyst |
50.0% |
1/2 |
| Unilateral cryptorchidism |
50.0% |
1/2 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
12/12 |
| Scoliosis |
50.0% |
6/12 |
| Brachydactyly |
16.7% |
2/12 |
| Broad hallux |
16.7% |
2/12 |
| Pes planus |
16.7% |
2/12 |
| Short finger |
16.7% |
2/12 |
| 2-3 toe syndactyly |
16.7% |
2/12 |
| Abnormal sacral segmentation |
8.3% |
1/12 |
| Abnormal finger morphology |
8.3% |
1/12 |
| Abnormal fingertip morphology |
8.3% |
1/12 |
| Abnormal Achilles tendon morphology |
8.3% |
1/12 |
| Abnormal pelvis bone morphology |
8.3% |
1/12 |
| Abnormality of the knee |
8.3% |
1/12 |
| Abnormality of the lower limb |
8.3% |
1/12 |
| Abnormal occipital bone morphology |
8.3% |
1/12 |
| Brachycephaly |
8.3% |
1/12 |
| Clinodactyly of the 4th toe |
8.3% |
1/12 |
| Joint hypermobility |
8.3% |
1/12 |
| Juvenile rheumatoid arthritis |
8.3% |
1/12 |
| Kyphosis |
8.3% |
1/12 |
| Limited elbow extension |
8.3% |
1/12 |
| Narrow chest |
8.3% |
1/12 |
| obsolete Joint laxity |
8.3% |
1/12 |
| Pectus excavatum |
8.3% |
1/12 |
| Pseudohypoparathyroidism |
8.3% |
1/12 |
| Short neck |
8.3% |
1/12 |
| Slender finger |
8.3% |
1/12 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
7/7 |
| Supernumerary nipple |
28.6% |
2/7 |
| Abnormal finger morphology |
14.3% |
1/7 |
| Brachydactyly |
14.3% |
1/7 |
| Deep palmar crease |
14.3% |
1/7 |
| Hirsutism |
14.3% |
1/7 |
| Hyperextensible skin |
14.3% |
1/7 |
| Low anterior hairline |
14.3% |
1/7 |
| Pterygium |
14.3% |
1/7 |
| Redundant skin |
14.3% |
1/7 |
| Sacrococcygeal pilonidal abnormality |
14.3% |
1/7 |
| Single transverse palmar crease |
14.3% |
1/7 |
| Tapered finger |
14.3% |
1/7 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
100.0% |
2/2 |
| Abnormal circulating creatine kinase concentration |
50.0% |
1/2 |
| Hypercalcemia |
50.0% |
1/2 |
| Abnormality of the immune system |
42.9% |
3/7 |
| Elevated circulating thyroid-stimulating hormone concentration |
14.3% |
1/7 |
| Hypothyroidism |
14.3% |
1/7 |
| Recurrent infections |
14.3% |
1/7 |