DGM (Dutch-German Mennonites)

Inheritance: autosomal recessive
Genes: unknown

Sensorineural deafness
Obstruction of foramen of Monro

Deafness
Hydrocephalus
Agenesis of corpus callosum
Arachnoid cysts
Foramen of Monro obstruction

Chudley-McCullough Syndrome

Clinical Characteristics

General description (for patients):

Only a few families with this presumed syndrome have been reported but numerous sibs with a combination of a sensorineural hearing loss and brain malformations suggest it is a unique genetic entity. Hydrocephalus secondary to a blockage of an internal brain structure can occur and sometimes proper brain connections do not develop.  Brain cysts have also been noted.  Occasional patients have had developmental delays.

Medical description:  

Profound and progressive sensorineural deafness and brain malformations characterize this recently described syndrome.  Obstruction of the foramen of Monro and agenesis of the corpus callosum lead to hydrocephalus in some but not all.  Arachnoid cysts, cortical dysplasia, gray matter hetertopia, and cerebellar dysgenesis have also been noted suggesting a fundamental defect in neural cell migration.  Some degree of delayed mental development may be seen.

Genetics:

This is a presumed autosomal recessive disorder but this conclusion is based solely on pedigree patterns.  No genomic studies have been reported.  The disorder has been reported in a Canadian Mennonite family in which the parents were consanguineous.  It was also identified in two Canadian Mennonite sisters of a reported non-consanguineous union.

Treatment: 

None

Prognosis:  

Too few reported cases to summarize any pattern

Ancillary treatments and support:

Hearing evaluations and appropriate aids

Specialists and specialty centers:

Neurologist, audiologist, ENT

References:

Chudley, A.E., McCullough, C., and McCullough, D.W.:  Bilateral sensorineural deafness and hydrocephalus due to foramen of Moro obstruction in sibs: a newly described autosomal recessive disorder.  Am. J. Med. Genet. 68: 350-356, 1997.  PubMed ID: 9024571

Welch, K.O., Tekin, M., Nance, W.E., Blanton, S.H., Amos, K.S., and Pandya, A.:  Chudley-McCoullough syndrome: expanded phenotype and review of the literature.   Am. J. Med. Genet. 119A: 71-76, 2003. PubMed ID: 12707963

Lemire, E.G., and Stoeber, G.P.:  Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities.  Am. J. Med. Genet. 90: 127-130, 2000.  PubMed ID: 10607951

Ostergaard, E., Pedersen, V.F., Skriver, E.B., and Brondum-Nielsen, K.:  Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.  Am. J. Med. Genet. 124A: 74-78, 2004.  PubMed: 14679590

Resources:

NIH Rare Diseases Information

Deafness in Children

Deafness Research Foundation