Table 1.
Genetic Basis of Syndromes Associated with Hydrocephalus
| Syndrome | Type of Disorder | Mode of Inheritance | Genetic Locus |
|---|---|---|---|
| L1 Syndrome, and X-Linked Hydrocephalus | Neuronal Adhesion | X-linked | L1CAM |
| Syndromic Craniosynostoses (Pfeiffer, Crouzon, Apert, Muenke) | Primary cerebral maldevelopment | Heterogeneous | FGFR1 (Pfeiffer), FGFR2 (Crouzon; Apert; Pfeiffer), FGFR3 (Muenke) |
| Achondroplasia | Growth Factor | Autosomal Dominant | FGFR3 |
| NF 1 | RASopathy | Autosomal Dominant | NF1 (17q11.2) |
| NF 2 | RASopathy | Autosomal Dominant | NF2 (22q12) |
| Down’s Syndrome | Trisomy | Non-disjunction | Chromosome 21 |
| Tuberous Sclerosis | mTOR related | Autosomal Dominant | DNAH5, DAIC1, CCDC151, MCIDAS, FOXJ1 |
| Walker-Warburg Syndrome/ Brain-muscle-eye disease | Dystroglycanopathies | Autosomal Recessive | POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, ISPD |
| Primary Ciliary Dyskinesia | Ciliopathy | Heterogeneous | DNAH5, MCIDAS, FOXJ1 |
| Osteogenesis Imperfecta | Connective tissue | Autosomal Dominant | COL1A1 and COL1A2 |
| Pettigrew Syndrome | Vesicle trafficking | X-linked | AP1S2 |
| Costello Syndrome | RASopathy | Autosomal Dominant | HRAS |
| Noonon Syndrome | RASopathy | Autosomal Dominant | CBL, KRAS, NRAS, PTPN11, SOS1, SHOC2 and RAF1 |
| Cardio-facio-cutaneous (CFC) syndrome | RASopathy | Autosomal Dominant | BRAF, MEK1, KRAS and MEK2 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) | PI3K-AKT-mTOR pathway | Autosomal Dominant | AKT3, CCND2 and PIK3R2 |
| Megalencephaly-capillary-malformation (MCAP) | PI3K-AKT-mTOR pathway | N/A | PIK3CA |