Phenotype #0000309918
| Individual ID |
00418582 |
| Associated disease |
? |
| Diagnosis/Initial |
brachyolmia, mucopolysaccharidosis, spondyloepiphysial dysplasia |
| Diagnosis/Definite |
MPS10 |
| Phenotype details |
height 145.5 cm, -4.53 SD, weight 32.48 kg, OFC 52.5 cm, -2.41 SD; coarse facial features, long philtrum, broad nasal root; normal eye, no corneal opacity, normal fundus; normal auditory system; normal jaw, normal teeth; brachydactyly, arthropathy of right wrist; disproportionate short-trunk short stature, genu valgus, mild scoliosis; liver normal; spleen normal; 6y-operation for right renal calculus; heart normal; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; hyperlordosis; scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
17y (17 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-09-30 11:29:08 +02:00 (CEST) |
| Date last edited |
N/A |
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