Synonyms: Dandy-Walker-like syndrome, cranio-cerebello-cardiac (3C, CCC) dysplasia or syndrome
A syndrome of craniofacial anomalies (macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, depressed nasal bridge, narrow palate, and apparently low-set ears), and atrioventricular septal defect. One sister in the original report had Dandy-Walker malformation (absent or hypoplastic cerebellar vermis, hydrocephalus, and posterior fossa continuing with the fourth ventricle). Additional anomalies include colobomas, hypertelorism, hand abnormalities, and mental retardation.
- Head and neck: Macrocephaly, bulging forehead and occiput, and foramina parietalia, and large anterior fontanelle.
- Ears: Low-set malformed ears.
- Eyes: Coloboma, hypertelorism, glaucoma and downslanting palpebral fissures.
- Nose: Depressed nasal bridge.
- Mouth and oral structures: Narrow cleft palate and bifid uvula.
- Neck: Short neck.
- Thorax: Eleven pairs of ribs and hypoplastic nipples
- Hand and foot: Brachydactyly of the hand, proximal thumb, camptodactyly, and syndactyly. Abnormal palmar lines are the main dermatoglyphic features.
- Spine: Hemivertebrae
- Muscles: Hypotonia.
- Skin appendages: Nail hypoplasia.
- Nervous system: Aplasia or hypoplasia of the cerebellar vermis, hydrocephalus, posterior fossa continuing with the fourth ventricle of the brain, hypoplasia of the cerebral hemispheres, enlarged cisterna magna and lateral ventricles, and hydrocephalus.
- Cardiovascular system: Atrioventricular canal, ventricular septal defect, atrial septal defect, cleft or parachute-shaped mitral valve, septum primum defect, tetralogy of Fallot, and defect of endocardial cushion.
- Urogenital system: Hypospadias.
- Immunologic system: Humoral immunodeficiency with low IgG.
- Growth and development: Growth, speech, and mental retardation.
- Behavior and performance: Deafness.
- Heredity: The syndrome is familial and transmitted as an autosomal recessive trait.
Ritscher D, Schinzel A et al Dandy-Walker (like) malformation, atrioventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome. Am J Med Genet, 1987, 26:481-91
Jablonski's Syndromes Database
Entry date: March 14, 2005.