Lateral Meningocele Syndrome

Watchlist

(log in to enable)

Retrieved

2021-01-23

Source

Orphanet

Trials

—

Genes

NOTCH3, CDKN2A, TP53, ESR1, PSMB9, AKT1, ACTB, CALD1, PTDSS1, MYOCD, H3P10, IFNG, JAK1, KIT, MYC, MYLK, PIK3CD, PGR, PIK3CA, PIK3CB, GAS6, PIK3CG, PTEN, TYRO3, SLMAP, SMUG1, MDM2, DES, CASQ2, ACTG2

NOTCH3, CDKN2A, TP53, ESR1, PSMB9, AKT1, ACTB, CALD1, PTDSS1, MYOCD, H3P10, IFNG, JAK1, KIT, MYC, MYLK, PIK3CD, PGR, PIK3CA, PIK3CB, GAS6, PIK3CG, PTEN, TYRO3, SLMAP, SMUG1, MDM2, DES, CASQ2, ACTG2, VCAN, H4C8, HDAC9, TP63, H4C14, H4C13, H4C5, MIR320A, H4C2, CD274, MVP, H4C3, H4C11, H4C12, H4C15, H4C6, H3P8, H4C4, H4C1, MIR152, MED12, MIRLET7D, SUB1, SF3B6, ANO1, HHAT, MIB1, PEG10, RPP14, CKAP4, H4C9, CARD14, LAMTOR2, SPINT2, TUBB3, AZIN2, H4-16, GADL1, OSTN, LINC01194, CDK2AP2, FZD6, ABL1, NAA10, LDHA, HTC2, HRAS, FABP3, EZH2, ELN, DMD, TIMM8A, DAP, CTNNB1, CSF3, CSF1, COMT, CFL2, CDSN, CD34, CCND2, BCL6, AXL, ALDH1A1, KRAS, MAA, TAM, MKI67, MLRL, UVRAG, TP53BP1, TOP2A, STAT3, STAT1, SRF, SRC, SLC12A3, SMTN, S100A9, RPE65, RB1, PTK2, PSME1, MAP2K7, PLAGL1, PCNA, ROR2, SPINT1

Drugs

—

Interested in hearing about new therapies?

A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.