MSL3

Graph & Charts

Patient Overview : 41

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 63.4% 26/41
Female 36.6% 15/41
Indifferent 0% 0/41
Unknown 0% 0/41
General    
Birth Length abnormalities 0% 0/41
Birth Weight abnormalities 7.3% 3/41
> P98 : Large for gestational age 2.4% 1/41
< P3 : Small for gestational age 4.9% 2/41
Birth Head circumference abnormalities 9.8% 4/41
> P98 : Macrocephaly at birth 9.8% 4/41
Current Height abnormalities 14.6% 6/41
< P3 : Short stature 12.2% 5/41
> P98 : Tall stature 2.4% 1/41
Current Weight abnormalities 12.2% 5/41
> P98 : Increased body weight 4.9% 2/41
< P3 : Decreased body weight 7.3% 3/41
Current Head circumference abnormalities 29.3% 12/41
> P98 : Macrocephaly 29.3% 12/41
Neurology    
Neurological abnormalities 97.5% 39/40
Muscular hypotonia 77.5% 31/40
Progressive spasticity 22.5% 9/40
Lower limb hyperreflexia 20.0% 8/40
Spasticity 17.5% 7/40
Ataxia 12.5% 5/40
Seizures 12.5% 5/40
Dystonia 10.0% 4/40
Hypokinesia 10.0% 4/40
Abnormality of movement 5.0% 2/40
Muscular hypotonia of the trunk 5.0% 2/40
Sleep disturbance 5.0% 2/40
Anarthria 2.5% 1/40
Bradykinesia 2.5% 1/40
Cerebral palsy 2.5% 1/40
Decreased facial expression 2.5% 1/40
Dysarthria 2.5% 1/40
Dysphagia 2.5% 1/40
Dyspnea 2.5% 1/40
Generalized dystonia 2.5% 1/40
Infantile axial hypotonia 2.5% 1/40
Infantile muscular hypotonia 2.5% 1/40
Nystagmus 2.5% 1/40
Obstructive sleep apnea 2.5% 1/40
Optic neuritis 2.5% 1/40
Poor eye contact 2.5% 1/40
Poor coordination 2.5% 1/40
Progressive spastic paraparesis 2.5% 1/40
Speech apraxia 2.5% 1/40
Behavioral problems 66.7% 22/33
Autism 27.3% 9/33
Behavioral abnormality 27.3% 9/33
Anxiety 9.1% 3/33
Attention deficit hyperactivity disorder 9.1% 3/33
Obsessive-compulsive behavior 6.1% 2/33
Autistic behavior 3.0% 1/33
Hair-pulling 3.0% 1/33
Recurrent hand flapping 3.0% 1/33
Self-injurious behavior 3.0% 1/33
Brain abnormality 54.2% 13/24
Dilation of lateral ventricles 25.0% 6/24
Inferior vermis hypoplasia 20.8% 5/24
Ventriculomegaly 20.8% 5/24
Aplasia of the inferior half of the cerebellar vermis 12.5% 3/24
Periventricular leukomalacia 8.3% 2/24
Perivascular spaces 8.3% 2/24
Cerebellar vermis hypoplasia 4.2% 1/24
Colpocephaly 4.2% 1/24
Encephalopathy 4.2% 1/24
Hydrocephalus 4.2% 1/24
Periventricular cysts 4.2% 1/24
Suprasellar arachnoid cyst 4.2% 1/24
Facial abnormalities    
Abnormality of the ear 63.2% 24/38
Abnormality of the pinna 34.2% 13/38
Low-set ears 23.7% 9/38
Low-set, posteriorly rotated ears 5.3% 2/38
Microtia 5.3% 2/38
Overfolded helix 5.3% 2/38
Preauricular skin tag 5.3% 2/38
Thickened helices 5.3% 2/38
Abnormality of the helix 2.6% 1/38
Anteverted ears 2.6% 1/38
Macrotia 2.6% 1/38
Overfolding of the superior helices 2.6% 1/38
Posteriorly rotated ears 2.6% 1/38
Prominent antihelix 2.6% 1/38
Protruding ear 2.6% 1/38
Abnormality of the eye 76.9% 30/39
Prominent epicanthal folds 43.6% 17/39
Downslanted palpebral fissures 35.9% 14/39
Telecanthus 30.8% 12/39
Hypertelorism 12.8% 5/39
Deeply set eye 7.7% 3/39
Long eyelashes 5.1% 2/39
Abnormality of the retina 2.6% 1/39
Abnormality of the eyebrow 2.6% 1/39
Infra-orbital crease 2.6% 1/39
Periorbital fullness 2.6% 1/39
Thick eyebrow 2.6% 1/39
Abnormality of the nose 44.7% 17/38
Wide nasal bridge 36.8% 14/38
Anteverted nares 15.8% 6/38
Bulbous nose 2.6% 1/38
Choanal stenosis 2.6% 1/38
Long nose 2.6% 1/38
Thick nasal alae 2.6% 1/38
Abnormality of the mouth 79.5% 31/39
Downturned corners of mouth 33.3% 13/39
Smooth philtrum 20.5% 8/39
Retrognathia 17.9% 7/39
High palate 7.7% 3/39
Tented upper lip vermilion 7.7% 3/39
Thin upper lip vermilion 7.7% 3/39
Dental crowding 5.1% 2/39
Long philtrum 5.1% 2/39
Protruding tongue 5.1% 2/39
Cleft palate 2.6% 1/39
Furrowed tongue 2.6% 1/39
Microdontia 2.6% 1/39
Narrow mouth 2.6% 1/39
Short philtrum 2.6% 1/39
Thick vermilion border 2.6% 1/39
U-Shaped upper lip vermilion 2.6% 1/39
Widely spaced teeth 2.6% 1/39
Visual and hearing impairments    
Abnormal hearing 23.7% 9/38
Sensorineural hearing impairment 10.5% 4/38
Conductive hearing impairment 7.9% 3/38
Hearing impairment 5.3% 2/38
Bilateral sensorineural hearing impairment 2.6% 1/38
Abnormal vision 50.0% 11/22
Exotropia 13.6% 3/22
Strabismus 13.6% 3/22
Visual impairment 9.1% 2/22
Amblyopia 4.5% 1/22
Anisocoria 4.5% 1/22
Esotropia 4.5% 1/22
Hypermetropia 4.5% 1/22
Lacrimal duct stenosis 4.5% 1/22
Myopia 4.5% 1/22
Heart    
Abnormality of the heart 11.8% 4/34
Abnormality of the cardiovascular system 2.9% 1/34
Aortic root dilatation 2.9% 1/34
Atria septal defect 2.9% 1/34
Patent foramen ovale 2.9% 1/34
Pulmonic stenosis 2.9% 1/34
Supraventricular tachycardia 2.9% 1/34
Gastrointestinal    
Gastrointestinal abnormalities 78.9% 30/38
Constipation 44.7% 17/38
Gastroesophageal reflux 31.6% 12/38
Feeding difficulties 28.9% 11/38
Abdominal distention 7.9% 3/38
Feeding difficulties in infancy 7.9% 3/38
Vomiting 5.3% 2/38
Celiac disease 2.6% 1/38
Chronic constipation 2.6% 1/38
Esophagitis 2.6% 1/38
Gastritis 2.6% 1/38
Rectal prolapse 2.6% 1/38
Urogenital    
Abnormality of the urogenital system 17.6% 6/34
Cryptorchidism 2.9% 1/34
Hydroureter 2.9% 1/34
Hydronephrosis 2.9% 1/34
Ureteropelvic junction obstruction 2.9% 1/34
Urinary retention 2.9% 1/34
Skeleton    
Skeletal abnormalities 72.2% 26/36
Short palm 13.9% 5/36
Abnormality of the palmar creases 11.1% 4/36
Pes planus 11.1% 4/36
Tapered finger 11.1% 4/36
Short neck 8.3% 3/36
Short foot 8.3% 3/36
Clinodactyly 5.6% 2/36
Pectus carinatum 5.6% 2/36
Plagiocephaly 5.6% 2/36
Adducted thumb 2.8% 1/36
Arachnodactyly 2.8% 1/36
Broad foot 2.8% 1/36
Camptodactyly 2.8% 1/36
Flexion contracture 2.8% 1/36
Flexion contracture of thumb 2.8% 1/36
Kyphosis 2.8% 1/36
Limb undergrowth 2.8% 1/36
Metaphyseal dysplasia 2.8% 1/36
Rhizomelia 2.8% 1/36
Short stature 2.8% 1/36
Slender toe 2.8% 1/36
Thoracic kyphosis 2.8% 1/36
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 54.3% 19/35
Thick hair 28.6% 10/35
Eczema 8.6% 3/35
Nevus 8.6% 3/35
Blepharitis 2.9% 1/35
Bruising susceptibility 2.9% 1/35
Facial erythema 2.9% 1/35
Freckling 2.9% 1/35
Hemangioma 2.9% 1/35
Hyperhidrosis 2.9% 1/35
Hypermelanotic macule 2.9% 1/35
Hypoplastic nipples 2.9% 1/35
Pallor 2.9% 1/35
Short nail 2.9% 1/35