Cornelia de Lange syndrome

What it is

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.

Key facts

Prevalence

1-9 / 1 000 000 (Denmark)

Age of onset

Antenatal, Neonatal

Inheritance

Autosomal dominant, Not applicable, X-linked recessive

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.

Genes

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