Patient Overview : 5

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 80.0% 4/5
Female 20.0% 1/5
General    
Birth Length abnormalities 20.0% 1/5
< P3 : Birth length less than 3rd percentile 20.0% 1/5
Birth Weight abnormalities 0% 0/5
Birth Head circumference abnormalities 0% 0/5
Current Height abnormalities 40.0% 2/5
< P3 : Short stature 40.0% 2/5
Current Weight abnormalities 40.0% 2/5
< P3 : Decreased body weight 40.0% 2/5
Current Head circumference abnormalities 20.0% 1/5
< P3 : Microcephaly 20.0% 1/5
Neurology    
Neurological abnormalities 100.0% 5/5
Limb hypertonia 60.0% 3/5
Neonatal hypotonia 40.0% 2/5
Seizures 40.0% 2/5
Cerebral palsy 20.0% 1/5
Infantile axial hypotonia 20.0% 1/5
Infantile muscular hypotonia 20.0% 1/5
Muscular hypotonia 20.0% 1/5
Spastic tetraplegia 20.0% 1/5
Behavioral problems 20.0% 1/5
Aggressive behavior 20.0% 1/5
Autism 20.0% 1/5
Hair-pulling 20.0% 1/5
Insomnia 20.0% 1/5
Brain abnormality 100.0% 5/5
Absent septum pellucidum 60.0% 3/5
Cortical dysplasia 60.0% 3/5
Hydrocephalus 60.0% 3/5
Polymicrogyria 60.0% 3/5
Arnold-Chiari type I malformation 40.0% 2/5
Agenesis of corpus callosum 20.0% 1/5
Aplasia/Hypoplasia of the cerebral white matter 20.0% 1/5
Colpocephaly 20.0% 1/5
Corpus callosum atrophy 20.0% 1/5
Hypoplasia of the corpus callosum 20.0% 1/5
Hypoplasia of the frontal lobes 20.0% 1/5
Optic nerve hypoplasia 20.0% 1/5
Facial abnormalities    
Abnormality of the ear 25.0% 1/4
Cupped ear 25.0% 1/4
Abnormality of the eye 100.0% 5/5
Hypertelorism 80.0% 4/5
Downslanted palpebral fissures 40.0% 2/5
Highly arched eyebrow 40.0% 2/5
Dermatochalasis 20.0% 1/5
Prominent glabella 20.0% 1/5
Telecanthus 20.0% 1/5
Upslanted palpebral fissure 20.0% 1/5
Abnormality of the nose 80.0% 4/5
Broad columella 60.0% 3/5
Broad nasal tip 20.0% 1/5
Broad philtrum 20.0% 1/5
Depressed nasal bridge 20.0% 1/5
Short philtrum 20.0% 1/5
Abnormality of the mouth 25.0% 1/4
Dental crowding 25.0% 1/4
High palate 25.0% 1/4
Macroglossia 25.0% 1/4
Thick vermilion border 25.0% 1/4
Visual and hearing impairments    
Abnormal vision 40.0% 2/5
Esotropia 20.0% 1/5
Hypermetropia 20.0% 1/5
Myopia 20.0% 1/5
Gastrointestinal    
Gastrointestinal abnormalities 75.0% 3/4
Failure to thrive 50.0% 2/4
Gastrostomy tube feeding in infancy 50.0% 2/4
Gastroesophageal reflux 25.0% 1/4
Vomiting 25.0% 1/4
Urogenital    
Abnormality of the urogenital system 20.0% 1/5
Bilateral renal hypoplasia 20.0% 1/5
Bilateral cryptorchidism 20.0% 1/5
Skeleton    
Skeletal abnormalities 100.0% 5/5
Kyphoscoliosis 60.0% 3/5
Brachydactyly syndrome 40.0% 2/5
Proximal placement of thumb 40.0% 2/5
Abnormality of forearm bone 20.0% 1/5
Brachycephaly 20.0% 1/5
Clinodactyly of the 5th toe 20.0% 1/5
Craniosynostosis 20.0% 1/5
Decreased hip abduction 20.0% 1/5
Hip dislocation 20.0% 1/5
Hip Subluxation 20.0% 1/5
Knee flexion contracture 20.0% 1/5
Narrow joint spaces of wrist 20.0% 1/5
Pes planus 20.0% 1/5
Short foot 20.0% 1/5
Small fontanelle 20.0% 1/5
Small hand 20.0% 1/5
Ulnar deviation of the wrist 20.0% 1/5
Vertebral compression fractures 20.0% 1/5
2-5 finger syndactyly 20.0% 1/5
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 50.0% 2/4
Bridged palmar crease 25.0% 1/4
Capillary hemangiomas 25.0% 1/4
Low posterior hairline 25.0% 1/4
Supernumerary nipple 25.0% 1/4
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 20.0% 1/5
Decreased plasma carnitine 20.0% 1/5
Abnormality of the metabolic system 20.0% 1/5
Osteopenia 20.0% 1/5