Cleidocranial Dysplasia, Recessive Form

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

RUNX2, RYR1, RNF146, CEBPB, SLC26A3, BTF3P11, TNFRSF11B, LMNA, TNFSF11, ADAMTS13, TNFRSF11A, TBX1, TCF7, PHGDH, STK11, SOX9, SIRT1, ALDH2, TNNI3K, PAG1, SLC22A3, RPTOR, MUL1, CBLL2, TCTE1, MIR185, MIR31, POU5F1P3, PCBP4, PRKAB1, SCN5A, OPN1LW, RUNX1, CREBBP, DSPP, EIF4E, ELANE, FGFR1, IBSP, IGFBP2, IL17A, MSX2, MYC, MYL3, NELL1, PRKN, PIN1, POU5F1, PRKAA1, PRKAA2, BMP6, POU5F1P4

Drugs

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Goodman et al. (1975) described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed.