Syndrome | Symptoms | Inheritance |
Bickers-Adams (x-linked hydrocephalus HSAS) | aqueductal stenosis adduction deformities of the thumbs L1CAM gene mutation | x chromosmal recessive |
Hydrocephalus without aqueductal stenosis | mental retardation | x chromosomal recessive |
Hydrolethalus | microphthalmia polydactyly congenital heart disease pulmonal hypoplasia | autosomal recessive |
Meckel | polycystic kidneys polydactyly encephalocele | autosomal recessive MKS1: chr 17 MKS2: chr 11 MKS3: chr 8 |
VACTERL association | vertebral anomalies of the spine anal atresia congenital heart disease tracheo-esophageal fistula renal abnormalities limb malformations | when associated with hydrocephalus: autosomal recessive or x-linked |
VATER association | macrocephaly ventriculomegaly | autosomal recessive |
Waaler-Aarskog | Sprengel anomaly (undescended scapula) costovertebral dysplasia | probably autosomal dominant |
Walker-Warburg (Cerebro-Oculo-Muscular Syndrome COMS) | lissencephaly retinal dysplasia and anomalies of the anterior ocular chamber severe neurological dysfunction encephalocele | autosomal recessive: chr 9q34.1 |