Bladder exstrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BEEC, INCLUDED Classic exstrophy of the bladder |
| Number of Symptoms | 28 |
| OrphanetNr: | 93930 |
| OMIM Id: |
600057
|
| ICD-10: |
Q64.1 |
| UMLs: |
C0005689 |
| MeSH: |
D001746 |
| MedDRA: |
|
| Snomed: |
61758007 |
Prevalence, inheritance and age of onset:
| Prevalence: | 2.8 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Exstrophy-epispadias complex
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease -Rare urogenital disease |
Symptom Information:
|
|
(HPO:0000795) | Abnormality of the urethra | Frequent [Orphanet] | 38 / 7739 | |||
|
|
(HPO:0000076) | Vesicoureteral reflux | Very frequent [Orphanet] | 94 / 7739 | |||
|
|
(HPO:0000072) | Hydroureter | 146 / 7739 | ||||
|
|
(HPO:0000039) | Epispadias | 7 / 7739 | ||||
|
|
(HPO:0000010) | Recurrent urinary tract infections | Frequent [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0000085) | Horseshoe kidney | 39 / 7739 | ||||
|
|
(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0002836) | Bladder exstrophy | 8 / 7739 | ||||
|
|
(HPO:0000122) | Unilateral renal agenesis | 24 / 7739 | ||||
|
|
(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
|
|
(HPO:0002644) | Abnormality of pelvic girdle bone morphology | 31 / 7739 | ||||
|
|
(HPO:0001539) | Omphalocele | Occasional [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0100548) | Exstrophy | Very frequent [Orphanet] | 4 / 7739 | |||
|
|
(HPO:0004378) | Abnormality of the anus | Very frequent [Orphanet] | 34 / 7739 | |||
|
|
(HPO:0002607) | Bowel incontinence | Occasional [Orphanet] | 33 / 7739 | |||
|
|
(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
|
|
(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
|
|
(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
|
|
(HPO:0002566) | Intestinal malrotation | Occasional [Orphanet] | 89 / 7739 | |||
|
|
(HPO:0002244) | Abnormality of the small intestine | Occasional [Orphanet] | 12 / 7739 | |||
|
|
(HPO:0001545) | Anteriorly placed anus | 55 / 7739 | ||||
|
|
(OMIM) | Displaced umbilicus (inferiorly) | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Rectus fascia separation | 1 / 7739 | ||||
|
|
(OMIM) | Rectus abdominis muscle separation | 1 / 7739 | ||||
|
|
(OMIM) | Pubic diastasis | 1 / 7739 | ||||
|
|
(HPO:0012815) | Hypoplastic female external genitalia | Very frequent [Orphanet] | 36 / 7739 | |||
|
|
(OMIM) | Bifid clitoris | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe ... |
| Clinical Description OMIM |
Utsch et al. (2006) reported a newborn girl with classic exstrophy of the bladder. Prenatal ultrasound studies showed protrusion of the abdominal wall and a single umbilical artery. After birth, she was noted to have diastasis of the ... |
| Population genetics OMIM |
The prevalence of BEEC among individuals of European descent has been estimated to be 1 in 30,000 to 40,000 live births with a male-to-female ratio of 2.3:1 (Shapiro et al., 1984; Utsch et al., 2006). To ... |