Gender |
|
|
Male |
44.4% |
4/9 |
Female |
55.6% |
5/9 |
Indifferent |
0% |
0/9 |
Unknown |
0% |
0/9 |
General |
|
|
Birth Length abnormalities |
22.2% |
2/9 |
< P3 : Birth length less than 3rd percentile |
22.2% |
2/9 |
Birth Weight abnormalities |
77.8% |
7/9 |
< P3 : Small for gestational age |
77.8% |
7/9 |
Birth Head circumference abnormalities |
11.1% |
1/9 |
< P3 : Congenital microcephaly |
11.1% |
1/9 |
Current Height abnormalities |
66.7% |
6/9 |
< P3 : Short stature |
66.7% |
6/9 |
Current Weight abnormalities |
22.2% |
2/9 |
< P3 : Decreased body weight |
22.2% |
2/9 |
Current Head circumference abnormalities |
33.3% |
3/9 |
> P98 : Macrocephaly |
11.1% |
1/9 |
< P3 : Microcephaly |
22.2% |
2/9 |
Neurology |
|
|
Neurological abnormalities |
55.6% |
5/9 |
Muscular hypotonia |
44.4% |
4/9 |
Febrile seizures |
11.1% |
1/9 |
Memory impairment |
11.1% |
1/9 |
Migraine |
11.1% |
1/9 |
Nystagmus |
11.1% |
1/9 |
Poor motor coordination |
11.1% |
1/9 |
Seizures |
11.1% |
1/9 |
Specific learning disability |
11.1% |
1/9 |
Behavioral problems |
44.4% |
4/9 |
Autistic behavior |
11.1% |
1/9 |
Impaired social interactions |
11.1% |
1/9 |
Short attention span |
11.1% |
1/9 |
Sleep disturbance |
11.1% |
1/9 |
Stereotypic behavior |
11.1% |
1/9 |
Brain abnormality |
28.6% |
2/7 |
CNS demyelination |
14.3% |
1/7 |
Delayed myelination |
14.3% |
1/7 |
Hypoplasia of the corpus callosum |
14.3% |
1/7 |
Ventriculomegaly |
14.3% |
1/7 |
Facial abnormalities |
|
|
Abnormality of the ear |
66.7% |
6/9 |
Preauricular skin tag |
55.6% |
5/9 |
Low-set ears |
33.3% |
3/9 |
Macrotia |
22.2% |
2/9 |
Abnormality of the helix |
11.1% |
1/9 |
Low-set, posteriorly rotated ears |
11.1% |
1/9 |
Abnormality of the eye |
77.8% |
7/9 |
Periorbital fullness |
44.4% |
4/9 |
Deeply set eye |
33.3% |
3/9 |
Downslanted palpebral fissures |
22.2% |
2/9 |
Hypertelorism |
22.2% |
2/9 |
Blepharophimosis |
11.1% |
1/9 |
Abnormality of the nose |
55.6% |
5/9 |
Broad nasal tip |
11.1% |
1/9 |
Deviated nasal septum |
11.1% |
1/9 |
Prominent nose |
11.1% |
1/9 |
Wide nose |
11.1% |
1/9 |
Wide nasal bridge |
11.1% |
1/9 |
Abnormality of the mouth |
66.7% |
6/9 |
Dental crowding |
22.2% |
2/9 |
Retrognathia |
22.2% |
2/9 |
Abnormality of the mandible |
11.1% |
1/9 |
Bifid uvula |
11.1% |
1/9 |
Dental malocclusion |
11.1% |
1/9 |
Exaggerated cupid's bow |
11.1% |
1/9 |
Misalignment of teeth |
11.1% |
1/9 |
Submucous cleft soft palate |
11.1% |
1/9 |
Thick upper lip vermilion |
11.1% |
1/9 |
Thin upper lip vermilion |
11.1% |
1/9 |
Wide mouth |
11.1% |
1/9 |
Visual and hearing impairments |
|
|
Abnormal hearing |
44.4% |
4/9 |
Hearing impairment |
22.2% |
2/9 |
Conductive hearing impairment |
11.1% |
1/9 |
Severe sensorineural hearing impairment |
11.1% |
1/9 |
Abnormal vision |
44.4% |
4/9 |
Strabismus |
22.2% |
2/9 |
Abnormality of refraction |
11.1% |
1/9 |
Astigmatism |
11.1% |
1/9 |
Heart |
|
|
Abnormality of the heart |
33.3% |
3/9 |
Atria septal defect |
22.2% |
2/9 |
Abnormality of the aortic arch |
11.1% |
1/9 |
Patent foramen ovale |
11.1% |
1/9 |
Ventricular septal defect |
11.1% |
1/9 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
11.1% |
1/9 |
Chronic constipation |
11.1% |
1/9 |
Lactose intolerance |
11.1% |
1/9 |
Urogenital |
|
|
Abnormality of the urogenital system |
44.4% |
4/9 |
Hypospadias |
33.3% |
3/9 |
Aplasia/Hypoplasia of the testes |
11.1% |
1/9 |
Azoospermia |
11.1% |
1/9 |
Bilateral cryptorchidism |
11.1% |
1/9 |
Chordee |
11.1% |
1/9 |
Cryptorchidism |
11.1% |
1/9 |
Hydronephrosis |
11.1% |
1/9 |
Micropenis |
11.1% |
1/9 |
Skeleton |
|
|
Skeletal abnormalities |
77.8% |
7/9 |
Arachnodactyly |
33.3% |
3/9 |
Broad toe |
33.3% |
3/9 |
Clinodactyly of the 5th finger |
11.1% |
1/9 |
Congenital hip dislocation |
11.1% |
1/9 |
Facial cleft |
11.1% |
1/9 |
Joint hypermobility |
11.1% |
1/9 |
Metatarsus adductus |
11.1% |
1/9 |
Overlapping toe |
11.1% |
1/9 |
Postaxial polydactyly |
11.1% |
1/9 |
Sandal gap |
11.1% |
1/9 |
Short fourth metatarsal |
11.1% |
1/9 |
Short neck |
11.1% |
1/9 |
Short distal phalanx of toe |
11.1% |
1/9 |
Short fifth metatarsal |
11.1% |
1/9 |
Talipes equinovarus |
11.1% |
1/9 |
Tapered finger |
11.1% |
1/9 |
Toe clinodactyly |
11.1% |
1/9 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
100.0% |
9/9 |
Eczema |
33.3% |
3/9 |
Sacral dimple |
33.3% |
3/9 |
Nail dysplasia |
22.2% |
2/9 |
Small nail |
22.2% |
2/9 |
Abnormal bone ossification |
11.1% |
1/9 |
Abnormality of skin pigmentation |
11.1% |
1/9 |
Abnormality of the palmar creases |
11.1% |
1/9 |
Arachnodactyly |
11.1% |
1/9 |
Low anterior hairline |
11.1% |
1/9 |
Low posterior hairline |
11.1% |
1/9 |
Scrotal hyperpigmentation |
11.1% |
1/9 |
Skin dimples |
11.1% |
1/9 |
Sparse hair |
11.1% |
1/9 |
Sparse lateral eyebrow |
11.1% |
1/9 |
Synophrys |
11.1% |
1/9 |
Thick eyebrow |
11.1% |
1/9 |
Webbed neck |
11.1% |
1/9 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
33.3% |
3/9 |
Adrenal hyperplasia |
22.2% |
2/9 |
Hypothyroidism |
11.1% |
1/9 |
Abnormality of the immune system |
44.4% |
4/9 |
Recurrent respiratory infections |
22.2% |
2/9 |
Chronic otitis media |
11.1% |
1/9 |
Recurrent infections |
11.1% |
1/9 |
Recurrent urinary tract infections |
11.1% |
1/9 |
Recurrent otitis media |
11.1% |
1/9 |