RSPRY1

Graph and Chart

Patient Overview : 5

Frequency of all clinical findings

Percentage Cases
Gender    
Male 40.0% 2/5
Female 60.0% 3/5
Indifferent 0% 0/5
Unknown 0% 0/5
General    
Birth Length abnormalities 0% 0/0
Birth Weight abnormalities 0% 0/1
Birth Head circumference abnormalities 0% 0/0
Current Height abnormalities 100.0% 5/5
< P3 : Short stature 100.0% 5/5
Current Weight abnormalities 80.0% 4/5
< P3 : Decreased body weight 80.0% 4/5
Current Head circumference abnormalities 100.0% 5/5
< P3 : Microcephaly 80.0% 4/5
> P98 : Macrocephaly 20.0% 1/5
Neurology    
Neurological abnormalities 50.0% 1/2
Generalized hypotonia 50.0% 1/2
Brain abnormality 100.0% 2/2
Asymmetric ventricles 100.0% 2/2
Corpus callosum atrophy 50.0% 1/2
Skull asymmetry 50.0% 1/2
Facial abnormalities    
Abnormality of the ear 100.0% 2/2
Low-set ears 100.0% 2/2
Small earlobe 50.0% 1/2
Abnormality of the eye 100.0% 2/2
Hypertelorism 100.0% 2/2
Prominent epicanthal folds 100.0% 2/2
Ptosis 50.0% 1/2
Strabismus 50.0% 1/2
Abnormality of the nose 100.0% 2/2
Short nose 100.0% 2/2
Depressed nasal bridge 50.0% 1/2
Abnormality of the mouth 100.0% 1/1
Tented upper lip vermilion 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 5/5
Dysharmonic delayed bone age 100.0% 5/5
Overlapping toe 100.0% 5/5
Short femoral neck 100.0% 5/5
Short fourth metatarsal 100.0% 5/5
Coxa vara 80.0% 4/5
Craniosynostosis 80.0% 4/5
Genu varum 80.0% 4/5
Platyspondyly 80.0% 4/5
Scoliosis 80.0% 4/5
Genu valgum 40.0% 2/5
Thoracolumbar scoliosis 40.0% 2/5
Abnormality of femoral epiphysis 20.0% 1/5
Abnormality of the skull 20.0% 1/5
Abnormality of the tibial metaphysis 20.0% 1/5
Disproportionate short-trunk short stature 20.0% 1/5
Distal femoral bowing 20.0% 1/5
Fibroma 20.0% 1/5
Flattened femoral head 20.0% 1/5
Flat occiput 20.0% 1/5
Hyperlordosis 20.0% 1/5
Hyperextensibility of the finger joints 20.0% 1/5
Limited elbow extension 20.0% 1/5
Malar flattening 20.0% 1/5
Narrow pelvis bone 20.0% 1/5
Osteopenia 20.0% 1/5
Patellar subluxation 20.0% 1/5
Pointed hand bones 20.0% 1/5
Rocker bottom foot 20.0% 1/5
Short metacarpal 20.0% 1/5
Short neck 20.0% 1/5
Thoracic platyspondyly 20.0% 1/5