Phenotype #0000227561
| Individual ID |
00300260 |
| Associated disease |
SRTD |
| Diagnosis/Initial |
short rib polydactyly syndrome |
| Diagnosis/Definite |
SRTD18 |
| Phenotype details |
30w-delivery; dolichocephaly; brain with abnormal folding of the left hippocampus, neuroglial heterotopias in the roof of the temporal horn, and mildly dilated ventricles; hypertelorism, bilateral epicanthal folds; thin upper lip, attached to maxilla by mucosal fold, micrognathia; small chest, abnormally bent ribs, mild platyspondyly; liver with ductal abnormalities, pancreas with stellate area of fibrosis in the tail; abnormal maturation of the kidneys with a poorly formed nephrogenic zone, thin cortex and medulla, and fibrosis; micromelia, reverse campomelia of humeri, curved radii, and ulnae; abnormal ilia; micromelia, thin fibulae; postaxial polydactyly with brachydactyly, bilateral simian creases, bilateral partial syndactyly of the second and third toes |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
<0d |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-04-25 19:30:00 +02:00 (CEST) |
| Date last edited |
N/A |
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