Page last updated: 2024-09-27
CAVE Complex
A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.
Synonyms(6)
| Synonym |
|---|
| Pallister-Hall Syndrome |
| Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly |
| CAVE Complex |
| Cerebroacrovisceral Early Lethality Complex |
| Hypothalamic Hamartoblastoma Syndrome |
| Hall-Pallister Syndrome |
Research
Studies (3)
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|
| pre-1990 | 0 (0.00) | 23.3326 |
| 1990's | 0 (0.00) | 12.5806 |
| 2000's | 0 (0.00) | 18.1394 |
| 2010's | 3 (100.00) | 28.8240 |
| 2020's | 0 (0.00) | 9.53 |