prune belly syndrome

Term ID

DOID:0060889

Synonyms

• abdominal muscle deficiency syndrome
• Eagle-Barret syndrome
• Obrisnksy syndrome

Definition

A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (3)

References

• GARD:7479
• ICD10CM:Q79.4
• MESH:D011535
• OMIM:100100
• ORDO:2970

Ontology

Human Disease   ( DOID:0060889 )