Phenotypes associated with the disease Currarino syndrome (ORPHA:1552):
- Aplasia/Hypoplasia of the sacrum (HP:0008517): Aplasia or developmental hypoplasia of the sacral bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1552)
- Sacrococcygeal teratoma (HP:0030736): A teratoma arising in the sacro-coccygeal region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1552)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- Low back pain (HP:0003419): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- Anterior sacral meningocele (HP:0007293). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- Abdominal cramps (HP:0032155): A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1552)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Pelvic kidney (HP:0000125): A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Presacral teratoma (HP:0009793): A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Anal fistula (HP:0010447): An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Sacral lipoma (HP:0012033): Presence of a lipoma in the region of the sacrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Dermoid cyst (HP:0025247): A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Mesenteric cyst (HP:0030451): A closed fluid filled sac originating from the mesentary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Sigmoid kidney (HP:0034231): A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Epidermoid cyst (HP:0200040): Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Rectal duplication (HP:6000336): A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1552)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1552)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1552)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1552)