RSPRY1
| 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 fourth metatarsal | 100.0% | 5/5 |
| Short femoral neck | 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 the skull | 20.0% | 1/5 |
| Abnormality of femoral epiphysis | 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 |