- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: PCS. Frequency: 1/1. (PMID:18775957)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:18775957;PMID:20087400)
- Chiari type II malformation (HP:0025660): A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. Evidence: PCS. Frequency: 1/1. (PMID:18775957)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. (OMIM:613686)
- Abnormal odontoid process morphology (HP:0003310): Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. Evidence: TAS. (OMIM:613686)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/3. (PMID:18775957;PMID:20087400)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: TAS. (OMIM:613686)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: PCS. Frequency: 1/1. (PMID:18775957)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: PCS. Frequency: 1/2. (PMID:20087400)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: PCS. Frequency: 1/1. (PMID:18775957)
- Reduced forced vital capacity (HP:0032341): An abnormal reduction in the amount of air a person can expel following maximal inspiration. Evidence: PCS. Frequency: 1/1. (PMID:20087400)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: PCS. Frequency: 2/2. (PMID:20087400)
- Reduced forced expiratory volume in one second (HP:0032342): An abnormal reduction in the amount of air a person can forcefully expel in one second. Evidence: PCS. Frequency: 1/1. (PMID:20087400)
- 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: 1/1. Onset: Third trimester onset (HP:0034197). (PMID:18775957)
- Block vertebrae (HP:0003305): Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). Evidence: TAS. (OMIM:613686)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: PCS. Frequency: 3/3. (PMID:18775957;PMID:20087400)
- 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: PCS. Frequency: 1/1. (PMID:18775957)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. (PMID:20087400)
- Broad neck (HP:0000475): Increased side-to-side width of the neck. Evidence: PCS. Frequency: 1/2. (PMID:20087400)
- Unilateral vertebral artery hypoplasia (HP:0030323): Underdevelopment of the vertebral artery on one side. Evidence: TAS. (OMIM:613686)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: PCS. Frequency: 1/1. (PMID:18775957)
- Vertebral artery hypoplasia (HP:0030322): Underdevelopment of the vertebral artery. Evidence: PCS. Frequency: 2/2. (PMID:20087400)
- Ectopic anus (HP:0004397): Abnormal displacement or malposition of the anus. Evidence: PCS. Frequency: 1/1. (PMID:18775957)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/2. (PMID:20087400)
- Aplasia of posterior communicating artery (HP:0034566): A developmental anomnaly characterized by the lack of development of the posterior communicating artery. Evidence: PCS. Frequency: 2/2. (PMID:20087400)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. Frequency: 1/1. (PMID:20087400)
- Rib fusion (HP:0000902): Complete or partial merging of adjacent ribs. Evidence: PCS. Frequency: 2/3. (PMID:18775957;PMID:20087400)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: PCS. Frequency: 1/1. (PMID:18775957)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/2. (PMID:20087400)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: PCS. Frequency: 1/2. (PMID:20087400)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:18775957)
These phenotypes are associated with the disease spondylocostal dysostosis 4, autosomal recessive (OMIM:613686).