loading...| Preferred Name |
Prune belly syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2970 |
| alternative_term |
Triad syndrome Abdominal muscle deficiency syndrome Eagle-Barret syndrome Obrinsky syndrome |
| definition |
A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
X-linked recessive Not applicable Autosomal dominant |
| hasDbXref |
MeSH:C536477 MeSH:D011535 ICD-11:LD2F.10 MedDRA:10051025 UMLS:C0033770 OMIM:100100 ICD-10:Q79.4 |
| label |
Prune belly syndrome |
| notation |
ORPHA:2970 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_2970 |
| prefLabel |
Prune belly syndrome |
| present_in |
United States AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 3.42 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown Italy AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView | |
| subClassOf |