Exstrophy-epispadias complex

What it is

A rare non-syndromic uro-genital tract malformation characterized by a spectrum of manifestations ranging in severity: epispadias (E) is the mildest form, classic exstrophy of the bladder (CEB) is the intermediate form and cloacal exstrophy (CE) the most severe form. Exstrophy-epispadias complex (EEC) involves the bladder, the genitalia, the lower abdominal wall, the pelvis and pelvic floor, and depending on the phenotype, the spine and the anus.

Key facts

Age of onset

Antenatal, Neonatal

Inheritance

Multigenic/multifactorial

Classified as

Malformation syndrome

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 reported in subtypes

Orphanet records these genes on 1 more specific entry under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

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.

Cross-references