- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: TAS. (OMIM:176450)
- Rectovaginal fistula (HP:0000143): The presence of a fistula between the vagina and the rectum. Evidence: PCS. (PMID:10749657)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 22/22. (PMID:10749657)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. (OMIM:176450)
- Tethered cord (HP:0002144): During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. Evidence: PCS. Frequency: 4/22. (PMID:10749657)
- Septate vagina (HP:0001153): The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. Evidence: TAS. (OMIM:176450)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. (OMIM:176450)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: TAS. (OMIM:176450)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. (OMIM:176450)
- Absence of the sacrum (HP:0010305): Absence (aplasia) of the sacrum. Evidence: PCS. Frequency: 1/22. (PMID:10749657)
- Anal fistula (HP:0010447): An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. Evidence: TAS. (OMIM:176450)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: TAS. (OMIM:176450)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: TAS. (OMIM:176450)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: IEA. (OMIM:176450)
- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: IEA. (OMIM:176450)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: TAS. (OMIM:176450)
- Perianal abscess (HP:0009789): The presence of an abscess located around the anus. Evidence: TAS. (OMIM:176450)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: TAS. (OMIM:176450)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. (OMIM:176450)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. (OMIM:176450)
- Gastrointestinal obstruction (HP:0004796). Evidence: TAS. (OMIM:176450)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. (OMIM:176450)
- Anterior sacral meningocele (HP:0007293). Evidence: TAS. (OMIM:176450)
- Bifid sacrum (HP:0009791): Presence of a bifid sacral bone. Evidence: TAS. (OMIM:176450)
- Hemisacrum (HP:0009790): A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. Evidence: PCS. Frequency: 21/22. Onset: Congenital onset (HP:0003577). (PMID:9843207)
- Presacral teratoma (HP:0009793): A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). Evidence: TAS. (OMIM:176450)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9843207)
These phenotypes are associated with the disease Currarino triad (OMIM:176450).