Greig cephalopolysyndactyly-contiguous gene syndrome

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by polydactyly, syndactyly (pre‑ or post‑axial polydactyly of hands and/or feet with variable cutaneous syndactyly), craniofacial features (including macrocephaly, frontal bossing, hypertelorism and broad nasal bridge)- that are similar to those observed in patients with Greig cephalopolysyndactyly syndrome-, as well as clear developmental delay, moderate to severe intellectual disability, seizures and structural brain abnormalities including agenesis/hypoplasia of the corpus callosum. Additional central nervous system anomalies may include ventriculomegaly, aqueductal stenosis and other midline defects. Patients present with larger microdeletions that encompass the GLI3 gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycemia may be present.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal

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.

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