Patient Overview : 19

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 47.4% 9/19
Female 52.6% 10/19
General    
Birth Length abnormalities 5.3% 1/19
< P3 : Birth length less than 3rd percentile 5.3% 1/19
Birth Weight abnormalities 0% 0/19
Birth Head circumference abnormalities 10.5% 2/19
< P3 : Congenital microcephaly 10.5% 2/19
Current Height abnormalities 31.6% 6/19
< P3 : Short stature 31.6% 6/19
Current Weight abnormalities 5.3% 1/19
< P3 : Decreased body weight 5.3% 1/19
Current Head circumference abnormalities 36.8% 7/19
< P3 : Microcephaly 36.8% 7/19
Neurology    
Neurological abnormalities 87.5% 14/16
Muscular hypotonia 56.3% 9/16
Seizures 37.5% 6/16
Neonatal hypotonia 18.8% 3/16
Speech apraxia 12.5% 2/16
Central sleep apnea 6.3% 1/16
Generalized tonic-clonic seizures 6.3% 1/16
Sleep disturbance 6.3% 1/16
Behavioral problems 54.5% 6/11
Autism 27.3% 3/11
Attention deficit hyperactivity disorder 18.2% 2/11
Behavioral abnormality 9.1% 1/11
Hyperactivity 9.1% 1/11
Shyness 9.1% 1/11
Brain abnormality 45.5% 5/11
Abnormality of the corpus callosum 9.1% 1/11
Abnormality of the cerebral white matter 9.1% 1/11
Agenesis of corpus callosum 9.1% 1/11
Perivascular spaces 9.1% 1/11
Subependymal cysts 9.1% 1/11
Facial abnormalities    
Abnormality of the ear 31.6% 6/19
Hypoplastic superior helix 5.3% 1/19
Low-set, posteriorly rotated ears 5.3% 1/19
Low-set ears 5.3% 1/19
Macrotia 5.3% 1/19
Microtia 5.3% 1/19
Small earlobe 5.3% 1/19
Thickened helices 5.3% 1/19
Abnormality of the eye 94.7% 18/19
Ptosis 68.4% 13/19
Blepharophimosis 52.6% 10/19
Downslanted palpebral fissures 52.6% 10/19
Hypertelorism 21.1% 4/19
Prominent epicanthal folds 5.3% 1/19
Short palpebral fissure 5.3% 1/19
Small palpebral fissure 5.3% 1/19
Upslanted palpebral fissure 5.3% 1/19
Abnormality of the nose 26.3% 5/19
Narrow naris 15.8% 3/19
Depressed nasal bridge 10.5% 2/19
Prominent nasal tip 5.3% 1/19
Short nose 5.3% 1/19
Abnormality of the mouth 94.7% 18/19
Downturned corners of mouth 52.6% 10/19
Narrow mouth 15.8% 3/19
Short philtrum 15.8% 3/19
Widely spaced teeth 15.8% 3/19
Exaggerated cupid's bow 10.5% 2/19
Bifid uvula 5.3% 1/19
Dental malocclusion 5.3% 1/19
High palate 5.3% 1/19
Micrognathia 5.3% 1/19
Narrow palate 5.3% 1/19
Smooth philtrum 5.3% 1/19
Thick upper lip vermilion 5.3% 1/19
Thin upper lip vermilion 5.3% 1/19
Upturned corners of mouth 5.3% 1/19
Wide mouth 5.3% 1/19
Visual and hearing impairments    
Abnormal vision 66.7% 12/18
Abnormality of refraction 22.2% 4/18
Strabismus 22.2% 4/18
Amblyopia 16.7% 3/18
Hypermetropia 11.1% 2/18
Aplasia/Hypoplasia of the optic nerve 5.6% 1/18
Hyperopic astigmatism 5.6% 1/18
Myopia 5.6% 1/18
Nystagmus 5.6% 1/18
Optic nerve hypoplasia 5.6% 1/18
Heart    
Abnormality of the heart 10.5% 2/19
Atria septal defect 5.3% 1/19
Hypertrophic cardiomyopathy 5.3% 1/19
Pulmonic stenosis 5.3% 1/19
Pulmonary    
Abnormality of the lungs 100.0% 2/2
Asthma 100.0% 2/2
Tracheomalacia 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 80.0% 8/10
Feeding difficulties 40.0% 4/10
Constipation 20.0% 2/10
Encopresis 20.0% 2/10
Gastroesophageal reflux 20.0% 2/10
Esophageal ulceration 10.0% 1/10
Esophagitis 10.0% 1/10
Skeleton    
Skeletal abnormalities 94.7% 18/19
Brachydactyly syndrome 26.3% 5/19
Short metacarpal 26.3% 5/19
Joint hypermobility 21.1% 4/19
Cervical vertebral fusion (C2/C3) 10.5% 2/19
Contracture of the proximal interphalangeal joint of the 5th finger 10.5% 2/19
Abnormality of the thumb 5.3% 1/19
Broad fingertip 5.3% 1/19
Butterfly vertebrae 5.3% 1/19
Camptodactyly of toe 5.3% 1/19
Clinodactyly of the 5th finger 5.3% 1/19
Clinodactyly of the 5th toe 5.3% 1/19
Clinodactyly 5.3% 1/19
Contracture of the proximal interphalangeal joint of the 2nd finger 5.3% 1/19
Cubitus valgus 5.3% 1/19
Finger clinodactyly 5.3% 1/19
Limb joint contracture 5.3% 1/19
Long toe 5.3% 1/19
Metatarsus adductus 5.3% 1/19
Short foot 5.3% 1/19
Short finger 5.3% 1/19
Talipes equinovarus 5.3% 1/19
Tapered finger 5.3% 1/19
2-3 toe syndactyly 5.3% 1/19
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 30.0% 3/10
Abnormality of the palmar creases 10.0% 1/10
Bilateral single transverse palmar creases 10.0% 1/10
Eczema 10.0% 1/10
Synophrys 10.0% 1/10
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 100.0% 1/1
Hypothyroidism 100.0% 1/1