Phenotype #0000325662
| Individual ID |
00435473 |
| Associated disease |
skeletal dysplasia |
| Diagnosis/Initial |
Rhizomelia and facial dysmorphism (Robinow and Frank-Ter Haar syndromes considered) |
| Diagnosis/Definite |
RLSDF |
| Phenotype details |
birth weight 2.3 kg, length 47 cm , OFC 32cm; length 88 cm (5.5 percentile, Z-1.5), OFC 45.6 cm (21 percentile, Z -0.78); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; bilateral fifth finger clinodactyly, b/l single thumb crease; slightly broad halluces; prominent eyes, depressed nasal bridge, mild hypertelorism, flat occipit, B/L cupped ears, rotated, fleshy ear lobes. epicanthal folds, short upturned nose, long philtrum, mid face hypoplasia, elfin-like face; no sloping shoulders; mild micrognathia; no platyspondyly; short humeri noted in skeletal survey, mild bilateral coxa valga deformity, 11 ribs (B/L); no laryngomalacia; no branchial cleft defect; no hearing loss; atrial septal defect; inferior cerebellar vermal hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
3y2m (3 years, 2 months) |
| Age/Diagnosis |
- |
| Age/Onset |
1d |
| 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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