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