- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: IEA. (OMIM:600145)
- 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:600145)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:17409324)
- 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: 1/4. (PMID:17409324)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: PCS. Frequency: 1/4. (PMID:17409324)
- Rectal abscess (HP:0005224): A collection of pus in the area of the rectum. Evidence: IEA. (OMIM:600145)
- 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. (OMIM:600145)
- Myeloschisis (HP:0030708): The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. Evidence: PCS. Frequency: 1/4. (PMID:17409324)
- Absence of the sacrum (HP:0010305): Absence (aplasia) of the sacrum. Evidence: IEA. (OMIM:600145)
- Sacral lipoma (HP:0012033): Presence of a lipoma in the region of the sacrum. Evidence: TAS. (OMIM:600145)
- Anterior sacral meningocele (HP:0007293). Evidence: TAS. (OMIM:600145)
- Hydromyelia (HP:0100565): Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. Evidence: PCS. Frequency: 1/4. (PMID:17409324)
- 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. (OMIM:600145)
- 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: PCS. Frequency: 1/4. (PMID:17409324)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: IEA. (OMIM:600145)
- Dermal sinus tract (HP:0020223): A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region. Evidence: PCS. Frequency: 1/4. (PMID:17409324)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: IEA. (OMIM:600145)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:600145)
- 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:17409324)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/4. (PMID:17409324)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: IEA. (OMIM:600145)
- Urinary retention (HP:0000016): Inability to completely empty the urinary bladder during the process of urination. Evidence: IEA. (OMIM:600145)
These phenotypes are associated with the disease familial caudal dysgenesis (OMIM:600145).