Phenotype #0000325656
| Individual ID |
00435467 |
| Associated disease |
skeletal dysplasia |
| Diagnosis/Initial |
dominant omodysplasia |
| Diagnosis/Definite |
RLSDF |
| Phenotype details |
birth weight 3326 g; length 116.5 cm (9th), on growth hormone therapy (prior to GH treatment height centile was 3.5mm below 0.4th centile), OFC 53.3 cm (50th centile); Rhizomelia upper limbs; no hypotonia; delayed walking secondary to increased tone; no kyphosis/hyperlordosis; bilateral fifth finger clinodactyly, left single palmar crease; normal feet; mild hypertelorism, epicanthic folds, long eyelashes, thin upper lip, smooth philtrum, pale capillary haemangioma on forehead; mild micrognathia, prominent metopic ridge; no platyspondyly; no metaphyseal changes; short humeri, lateral displacement of right patella; no laryngomalacia; no branchial cleft defect; no hearing loss; no cardiovascular anomalies; porencephalic cyst and associated increased tone, all four limbs, L>R; increased range of movement right elbow, left elbow is stiff, possibly dislocated, needs further assessment. undescended testes, mild neutropenia, hypoplastic pituitary gland on imaging and growth hormone deficiency; low TSH, teeth enamel pitting |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
7y2m (7 years, 2 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-07-31 14:44:28 +02:00 (CEST) |
| Date last edited |
N/A |
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