DGM (Dutch-German Mennonite)

Inheritance: autosomal recessive
Genes: unknown

Cerebral, Ocular, Dental, Auricular, Skeletal anomalies syndrome

Developmental delay
Ptosis
Malformed ears
Cataracts
Epiphyseal dysplasia
Dental abnormalities
Grooved nasal tip

CODAS Syndrome

Clinical Characteristics

General description (for patients):

This is a rare syndrome of mild developmental delay, ‘droopy’ eyelids, infantile cataracts, and other skeletal abnormalities.  The ears appear ‘crumpled’.  Only three cases have been reported, two of them in Canadian Mennonites and the third in Brazil.  No metabolic or genetic cause has been identified.

Medical description: 

CODAS is extremely rare and may not even be a genetic disorder.  However the three cases reported have nearly identical clinical features including short stature (with short humeri), ptosis, cataracts in the newborn period, dental abnormalities delayed epiphyseal ossification, malformed ears, short digits, and a peculiar vertical groove on the nasal tip.  Mild hypotonia with laxity of the joints may be present.  The developmental delay is very mild.

Genetics:

No metabolic or genetic cause has been identified in the three reported cases.  Two, a male and female, have been reported in Canadian Mennonites but the parents denied consanguinity.  Even so, autosomal recessive inheritance seems likely.

Treatment: 

No treatment is known.

Prognosis:

Unknown

Ancillary treatments and support:

General supportive care

Specialists and specialty centers:

Pediatrician, neurologist

References: 

Innes, A.M., Chudley, A.E., Reed, M.H., Shuckett, E.P., Hildes-Ripstein, G.E., Greenberg, C.R.: Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.  Am. J. Med. Genet. 102:44-47.  PubMed  ID:  11471171

Shebib, S.M., Reed, M.H., Shuckett, E.P., Cross, H.G., Perry, J.B., and Chudley, A.E.:  Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome – a case report.  Am. J. Med. Genet. 40: 88-93, 1991.  PubMed  ID : 1887855