PedAM
Pediatric Disease Annotations & Medicines
| Disease | growth failure |
| Phenotype | C0038015|spondyloepiphyseal dysplasia |
| Sentences | 2 |
| PubMedID- 24589093 | Typical findings of siod are spondyloepiphyseal dysplasia with disproportionate growth failure, typical facial appearance, nephrotic syndrome with focal segmental glomerulosclerosis (fsgs) and progressive renal failure, recurrent lymphopenia, t-cell immunodeficiency, and pigment naevi [1-3]. |
| PubMedID- 21914180 | In 1971 [13], is a rare multisystem autosomal recessive disorder consisting of facial dysmorphism, spondyloepiphyseal dysplasia leading to dysproportionate growth failure, t-cell immunodeficiency and nephropathy characterised by steroid resistant nephrotic syndrome and frequently focal segmental glomerulosclerosis [14,15]. |
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