A very rare syndrome combining multiple malformations
involving head and skeleton. CODAS is an acronym for cerebral ocular dental
auricular skeletal anomalies.
Only three cases have been
reported. Inheritance is undetermined; all three cases appear to be
sporadic. Two girls and one boy have been affected, two of them are of
Mennonite ancestry. Consanguinity was not reported in any of the cases.
All laboratory investigations including
karyotype, metabolic screening, and studies of cholesterol biosynthesis and
peroxisomes yielded normal results, and the underlying defect has not been
identified. However, the features of the disease suggest that a collagen
gene defect is involved. Clinical signs may involve the head and neck
(microcephaly, overfolded ears with dysplastic helices, flat nose with
vertically grooved nasal tip, short philtrum, abnormal enamel projections,
gingiva hypertrophy), the central nervous system (developmental delay), the
eyes (congenital cataracts, ptosis, nystagmus), the skeleton (delayed
ossification of upper and lower extremities, odontoid hypoplasia, deformed
vertebral bodies with coronal clefts, scoliosis, radiologic signs of
spondyloepiphyseal dysplasia, generalized abnormalities of the ilium, joint
dislocations, hypoplastic pectoral muscles, generalized hypotonia,
restricted pronation and supination), and the skin (alopecia).
Anesthesia in this condition has not been
described. Odontoid abnormalities may be associated with instability of the
cervical spine. Ascertain stability of the cervical spine both clinically and
radiologically, but also assess the range of motion of the cervical spine (other
vertebral anomalies). Perform direct laryngoscopy and tracheal intubation either
with in-line stabilization or primarily with the fiberoptic bronchoscope. Careful
intraoperative positioning is required to prevent joint dislocations.
Developmental delay may limit patient cooperation. Sedative and/or anxiolytic
premedication and the presence of the primary caregiver during induction of
anesthesia may be helpful.
De Almeida JC, Vargas FR, Barbosa-Neto JG, et al: CODAS syndrome: A new
distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal
dysplasia. Another case report. Am J Med Genet 55:19, 1995.
Innes AM, Chudley AE, Reed MH, et al: 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
Shebib SM, Reed MH, Shuckett EP, et al: Newly recognized syndrome of
cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome—A
case report. Am J Med Genet