Patella Aplasia/hypoplasia

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

FLNB, LMX1B, FKBP10, ARID1B, ORC6, RBM8A, TBX4, RECQL4, CDC45, ARID1A, GDF5, SOX11, SOX4, SMARCE1, SMARCC2, SMARCB1, SMARCA4, DPF2, ORC1, ARID2

Drugs

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Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.