Differential diagnoses of NPS
| Syndrome | Similarities | Differences | References |
|---|---|---|---|
| Small patella syndrome | Small or absent patellae | Defective ossification at the ischiopubic junction and ischial hypoplasia | 67– 70 |
| OMIM 147891 | Recurrent patella dislocations | Infra-acetabular “axe-cut” notch | |
| (ischiopatellar dysplasia, coxo-podo-patellar syndrome, Scott-Toar syndrome) | Pelvic anomalies | No nail changes | |
| No elbow changes | |||
| No renal involvement | |||
| No ocular involvement | |||
| Patella aplasia-hypoplasia | Isolated aplasia or hypoplasia of the patella | No nail changes | 71– 73 |
| OMIM 168860 PTLAH | No elbow changes | ||
| No renal involvement | |||
| No ocular involvement | |||
| Familial recurrent dislocation of the patella | Familial tendency towards patella dislocation | 74 | |
| OMIM 169000 | |||
| Meier-Gorlin syndrome | Absent patellae | Microtia | 75– 78 |
| OMIM *224690 | Dislocation of the radial head | Markedly short stature | |
| Delayed bone age | |||
| Characteristic facial appearance | |||
| Autosomal recessive inheritance | |||
| Genitopatellar syndrome | Absent patellae | Hypoplasia of the ischia and iliac bones | 79 |
| OMIM *606170 | Renal anomalies | Genital anomalies | |
| Flexion deformities of the knees and hips | Facial dysmorphism | ||
| Club foot | Microcephaly | ||
| Mental retardation | |||
| renal manifestations are structural (multicystic kidneys or hydronephrosis) rather than functional | |||
| DOOR syndrome | Absent or poorly formed nails | Long thumbs and big toes, often with triphalangism | 80 |
| OMIM *220500 | Other fingers and toes are short owing to an absent or hypoplastic distal phalanx | ||
| Bilateral ptosis | |||
| Short broad nose with a broad nasal tip and Large nostrils | |||
| Structural renal tract abnormalities cataracts, optic atrophy | |||
| Dandy-Walker malformation, seizures | |||
| Autosomal recessive inheritance | |||
| Trisomy 8 mosaicism | Absent or hypoplastic patellae | Significant learning difficulties and variable facial dysmorphism camptodactyly and progressive joint restriction usually of the fingers and toes | 53 |
| Limited elbow supination | |||
| Abnormal nails | |||
| Coffin-Siris syndrome | Absence or hypoplasia of the nails and patellae | Nail hypoplasia usually affects the little finger nails | 80 |
| OMIM 135900 | Elbow dislocation | Facial dysmorphism | |
| Developmental delay | |||
| RAPADILINO syndrome | Radial defects, absent or hypoplastic patellae | Cleft palate, facial dysmorphism, short stature, radial defects include absent or hypoplastic thumbs and radii | 80 |
| OMIM 266280 | Dislocated joints | Autosomal recessive inheritance | |
| Senior syndrome | Small nails | Characteristic facial appearance, short stature, and mild intellectual impairment | 81 |
| OMIM 113477 |