Signs / Symptoms (34)
| Craniofacial |
|---|
| Bilateral posterior subcapsular cataracts |
| Depressed nasal bridge |
| Frontal bossing |
| Hypoplasia of face |
| Macrocephaly, relative |
| Small nose |
| Upturned nose |
| General |
|---|
| A subgroup of patients with sponastrime dysplasia have severe mental retardation |
| Name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) |
| Growth |
|---|
| Short stature |
| Short-limb dwarfism |
| Hematologic |
|---|
| Hypogammaglobulinemia |
| Ocular |
|---|
| Hypertelorism |
| Oral |
|---|
| Dental abnormalities |
| Performance |
|---|
| Mental retardation |
| Respiratory |
|---|
| Laryngotracheomalacia |
| Skeletal |
|---|
| Biconcave vertebral bodies (later childhood) |
| Coxa vara |
| Decreasing lumbar vertebrae interpediculate distance |
| Delayed bone age |
| Delayed carpal bone ossification |
| Flattened capital femoral epiphyses |
| Hypoplastic epiphyses |
| Irregular metaphyses |
| Kyphoscoliosis |
| Limited elbow extension |
| Lumbar lordosis, increased |
| Metaphyseal striations |
| Mild mesomelia |
| Osteopenia |
| Platyspondyly |
| Relative increase in anterior vertebral body height |
| Thoracic kyphosis |
| Thorax |
|---|
| Subglottic stenosis |