Costello syndrome
Term · Oncology and biomedicine · MLC-T-ONC-002089
A rare genetic disorder that is caused by a mutation (change) in the HRAS gene. Costello syndrome is marked by shorter-than-average height, unusual facial features, extra folds of skin (especially on the neck, hands, and feet), loose joints, heart problems, and learning and developmental delays. People with Costello syndrome may develop small, non-cancerous wart-like growths called papillomas around the nose, mouth, or anus. They also have an increased risk of developing certain types of cancer, especially rhabdomyosarcoma (a type of soft tissue tumor) and neuroblastoma (cancer that forms from immature nerve cells).
| Identifier | MLC-T-ONC-002089 |
|---|---|
| Field | Oncology and biomedicine |
| References | NCI Dictionary of Cancer Terms |
Record as JSON
{
"id": "MLC-T-ONC-002089",
"term": "Costello syndrome",
"field": "Oncology and biomedicine",
"definition": "A rare genetic disorder that is caused by a mutation (change) in the HRAS gene. Costello syndrome is marked by shorter-than-average height, unusual facial features, extra folds of skin (especially on the neck, hands, and feet), loose joints, heart problems, and learning and developmental delays. People with Costello syndrome may develop small, non-cancerous wart-like growths called papillomas around the nose, mouth, or anus. They also have an increased risk of developing certain types of cancer, especially rhabdomyosarcoma (a type of soft tissue tumor) and neuroblastoma (cancer that forms from immature nerve cells).",
"references": [
"NCI Dictionary of Cancer Terms"
],
"url": "https://mlchart.com/terminology/oncology/costello-syndrome/"
}
Record 5,364 of 17,721 in Oncology and biomedicine terminology (MLC-0111). Request the full dataset.