Cerebrooculonasal syndrome

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormally shaped nose with bilateral proboscis-like nares, bilateral microphthalmia/anophthalmia (exceptionally may be missing in some patients), central nervous system anomalies, neurodevelopmental delay and intellectual disability. Majority of the patients present with brachycephaly/macrobrachycephaly and facial dysmorphism including large forehead, flat supraorbital ridges, sparse and medially absent eyebrows, sparse eyelashes, hypertelorism, telecanthus, epicanthic folds, downslanting palpebral fissures, malar hypoplasia, posteriorly rotated ears with a hypoplastic tragus and large conchae, large philtrum, high-arched and narrow palate, atypical cleft lip and single maxillary central incisor. Additional clinical features may involve bilateral frontal encephalocele, postaxial polydactyly, genital hypoplasia, cryptorchidism.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal, Neonatal

Inheritance

Autosomal dominant

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references