Patient Overview : 24

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 12/24
Female 50.0% 12/24
Neurology    
Neurological abnormalities 50.0% 12/24
Generalized hypotonia 37.5% 9/24
Global developmental delay 8.3% 2/24
Clumsiness 4.2% 1/24
Febrile seizures 4.2% 1/24
Neonatal hypotonia 4.2% 1/24
Behavioral problems 20.8% 5/24
Anxiety 12.5% 3/24
Behavioral abnormality 4.2% 1/24
Hyperactivity 4.2% 1/24
Shyness 4.2% 1/24
Facial abnormalities    
Abnormality of the ear 76.2% 16/21
Abnormality of the ear 14.3% 3/21
Posteriorly rotated ears 14.3% 3/21
Aplasia/Hypoplasia of the ear 9.5% 2/21
Protruding ear 9.5% 2/21
Absent earlobe 4.8% 1/21
Low-set, posteriorly rotated ears 4.8% 1/21
Macrotia 4.8% 1/21
Overfolded helix 4.8% 1/21
Preauricular skin tag 4.8% 1/21
Stenosis of the external auditory canal 4.8% 1/21
Abnormality of the eye 68.2% 15/22
Almond-shaped palpebral fissure 22.7% 5/22
Hypertelorism 22.7% 5/22
Downslanted palpebral fissures 13.6% 3/22
Strabismus 13.6% 3/22
Ptosis 9.1% 2/22
Upslanted palpebral fissure 9.1% 2/22
Abnormality of the lacrimal duct 4.5% 1/22
Epicanthus 4.5% 1/22
Hypoplasia of eyelid 4.5% 1/22
Iris coloboma 4.5% 1/22
Long eyelashes 4.5% 1/22
Prominent epicanthal folds 4.5% 1/22
Abnormality of the nose 81.0% 17/21
Prominent nasal bridge 28.6% 6/21
Abnormality of the nasal alae 23.8% 5/21
Long nose 23.8% 5/21
Prominent nose 19.0% 4/21
Underdeveloped nasal alae 19.0% 4/21
Wide nasal bridge 19.0% 4/21
Narrow nose 14.3% 3/21
Prominent nasal tip 14.3% 3/21
Abnormality of the nasal tip 9.5% 2/21
Wide nasal base 9.5% 2/21
Abnormality of the external nose 4.8% 1/21
Bilateral choanal atresia 4.8% 1/21
Pear-shaped nose 4.8% 1/21
Thick nasal alae 4.8% 1/21
Abnormality of the mouth 90.9% 20/22
Cleft palate 40.9% 9/22
Velopharyngeal insufficiency 36.4% 8/22
High palate 13.6% 3/22
Thin upper lip vermilion 13.6% 3/22
Long philtrum 9.1% 2/22
Narrow mouth 9.1% 2/22
Bifid uvula 4.5% 1/22
Broad alveolar ridges 4.5% 1/22
Deep philtrum 4.5% 1/22
High, narrow palate 4.5% 1/22
Hypoplastic philtrum 4.5% 1/22
Open mouth 4.5% 1/22
Short upper lip 4.5% 1/22
Smooth philtrum 4.5% 1/22
Submucous cleft soft palate 4.5% 1/22
Visual and hearing impairments    
Abnormal hearing 8.7% 2/23
Conductive hearing impairment 4.3% 1/23
Mild hearing impairment 4.3% 1/23
Abnormal vision 21.7% 5/23
Hypermetropia 8.7% 2/23
Myopia 4.3% 1/23
Visual impairment 4.3% 1/23
Heart    
Abnormality of the heart 50.0% 12/24
Ventricular septal defect 25.0% 6/24
Atria septal defect 8.3% 2/24
Patent ductus arteriosus 8.3% 2/24
Tetralogy of Fallot 8.3% 2/24
Abnormality of the aorta 4.2% 1/24
Interrupted aortic arch 4.2% 1/24
Left-to-right shunt 4.2% 1/24
Mitral regurgitation 4.2% 1/24
Muscular ventricular septal defect 4.2% 1/24
Patent ductus arteriosus after birth at term 4.2% 1/24
Perimembranous ventricular septal defect 4.2% 1/24
Peripheral pulmonary artery stenosis 4.2% 1/24
Pulmonary hypertension 4.2% 1/24
Right aortic arch 4.2% 1/24
Secundum atrial septal defect 4.2% 1/24
Gastrointestinal    
Gastrointestinal abnormalities 20.8% 5/24
Feeding difficulties 8.3% 2/24
Inguinal hernia 8.3% 2/24
Nasal regurgitation 8.3% 2/24
Umbilical hernia 4.2% 1/24
Urogenital    
Abnormality of the urogenital system 8.3% 2/24
Cryptorchidism 4.2% 1/24
Ectopic kidney 4.2% 1/24
Skeleton    
Skeletal abnormalities 58.3% 14/24
Micrognathia 20.8% 5/24
Hypoplasia of the maxilla 12.5% 3/24
Long fingers 12.5% 3/24
Retrognathia 12.5% 3/24
Abnormality of the skull 8.3% 2/24
Malar flattening 8.3% 2/24
Talipes equinovarus 8.3% 2/24
Abnormality of the distal phalanx of finger 4.2% 1/24
Dolichocephaly 4.2% 1/24
Long foot 4.2% 1/24
Narrow palm 4.2% 1/24
Overlapping toe 4.2% 1/24
Scoliosis 4.2% 1/24
Slender finger 4.2% 1/24
Small anterior fontanelle 4.2% 1/24
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 25.0% 6/24
Carious teeth 12.5% 3/24
Abnormality of the scalp hair 4.2% 1/24
Bilateral single transverse palmar creases 4.2% 1/24
Cyanosis 4.2% 1/24
Hypertrichosis 4.2% 1/24
Misalignment of teeth 4.2% 1/24
Sacral dimple 4.2% 1/24
Synophrys 4.2% 1/24
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 12.5% 3/24
Aplasia of the thymus 4.2% 1/24
Hypoparathyroidism 4.2% 1/24
Hypothyroidism 4.2% 1/24
Abnormality of the metabolic system 20.8% 5/24
Hypocalcemia 20.8% 5/24
Abnormality of the immune system 45.8% 11/24
Recurrent infections 20.8% 5/24
Abnormality of T cell number 8.3% 2/24
Recurrent respiratory infections 8.3% 2/24
Abnormality of the immune system 4.2% 1/24
Decreased number of CD8+ T cells 4.2% 1/24