Phenotype #0000325661
| Individual ID |
00435472 |
| Associated disease |
skeletal dysplasia |
| Diagnosis/Initial |
Rhizomelia and facial dysmorphism (Robinow syndrome considered) |
| Diagnosis/Definite |
RLSDF |
| Phenotype details |
birth weight 2970 g (19th), length 48 cm (16th); BMI 17.1 kg/m2; length 112.6 cm (1st centile, Z -2.27), OFC 54 cm (91st centile, Z 1.36); Rhizomelic shortening and milder mesomelic shortening of the upper and lower extremities; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; bilateral clinodactyly and shortening of fifth fingers, short thumbs, prominent pads, hyperextensible fingers; slightly broad halluxes, vertical deep plantar crease; high and prominent forehead, nevus flammeus on forehead, thick eyebrows, long lashes, mild hypertelorism, short nose, broad/ and low nasal bridge, anteverted nares, low set ears, prominent antihelix, wide neck, flat face; sloping shoulders; macrocephaly, dolicocephaly; no platyspondyly; slightly widened metaphyses; short humeri, short clavicles, flat acetabulum, bilateral coxa valga deformity, prominent medial femoral condyles, bilateral shortening distal phalange 1st and 2nd fingers and medial phalange of 5th finger; no laryngomalacia; no branchial cleft defect; no hearing loss; no cardiovascular anomalies; myopia (+4.8D), pectus excavatum, periungual hyperpigmentation, tooth decay, enamel pitting |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
7y6m (7 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
1y |
| 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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