Summary of clinical findings in the affected individuals
| Clinical and radiographic findings | Spondylocarpotarsal syndrome families | |||
|---|---|---|---|---|
| R99–438 | R00–008 | R03–062 | R00–084 | |
| Dysmorphic facies | + | + | + | + |
| Blue sclerae | − | + | − | + |
| Cataracts | + | − | − | − |
| Abnormal retina | + | − | − | − |
| Anteverted nares | − | + | + | + |
| Tooth enamel hypoplasia/dental decay | + | − | + | − |
| Micrognathia | − | + | − | − |
| Recurrent otitis media | + | + | + | − |
| Hearing loss | + | − | + | − |
| Short neck | + | + | − | + |
| Short stature | + | + | + | + |
| Epiphyseal delay | − | + | + | + |
| Scoliosis | + | + | + | + |
| Unsegmented vertebral | + | + | + | + |
| Bodies with unilateral bar | ||||
| Carpal synostosis | + | + | + | + |
| Decreased elbow extension | + | + | + | + |
| Tarsal synostosis | + | − | + | − |
| Pes planus | − | + | + | − |