Phenotype #0000269271
| Individual ID |
00374062 |
| Associated disease |
? |
| Diagnosis/Initial |
telangiectasia, ectodermal dysplasia, brachydactyly, congenital heart disease |
| Diagnosis/Definite |
- |
| Phenotype details |
pulmonary valve stenosis; thin, sparse hair; sparse eyebrows; deep set prodruding ears; high palate; premature loss of primary teeth, reduced number of permanent teeth, permanent teeth with short roots; no global developmental delay; no motor delay; no intellectual disability; no behavioral/psychiatric manifestations; no seizures; no microcephaly; no neuromuscular abnormalities; 2y-recurrent ear infections, partial; destruction of the right ear due to cholesteatoma; short thumbs and short first toe, brachydactyly; X-ray; 8y5m-short and broad metacarpalia 1 & 3-5, dysplastic metaphyses and epiphyses of metacarpalia 3-5, short distal phalanges, cone epiphyses (MC 1, MP 2 and 5), brachymesophalangy 2 & 5, partial syndactyly toe 2-3; thin translucent skin
X-ray of the spine: flattened vertebral bodies with prominent pedicles; parathormone: 9,9 (range 1-7) pmol/l on two occasions |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| 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 |
2021-05-22 22:29:37 +02:00 (CEST) |
| Date last edited |
N/A |
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