Phenotypes associated with the disease structural heart defects and renal anomalies syndrome (OMIM:617478):
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: PCS. Frequency: 1/4. (PMID:27040691)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. (OMIM:617478)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Systolic heart murmur (HP:0031664): A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. Evidence: PCS. Frequency: 4/4. (PMID:27040691)
- Tricuspid atresia (HP:0011662): Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 4/4. (PMID:28318500)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: PCS. Frequency: 1/4. (PMID:27040691)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 3/4. (PMID:27040691)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/4. Onset: Neonatal onset (HP:0003623). (PMID:28318500)
- Truncus arteriosus (HP:0001660): A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. Evidence: PCS. Frequency: 2/4. (PMID:28318500)
- Persistent left superior vena cava (HP:0005301): A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Partial anomalous pulmonary venous return (HP:0010773): A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Generalized edema (HP:0007430): Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: PCS. Frequency: 2/4. (PMID:28318500)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: PCS. Frequency: 1/4. (PMID:27040691)
- 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:28318500)
- Partial agenesis of the corpus callosum (HP:0001338): A partial failure of the development of the corpus callosum. Evidence: PCS. Frequency: 2/4. (PMID:28318500)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: PCS. Frequency: 1/4. Onset: Neonatal onset (HP:0003623). (PMID:27040691)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: PCS. Frequency: 2/4. (PMID:27040691)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/4. (PMID:28318500)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. Frequency: 1/4. (PMID:27040691)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/4. (PMID:27040691)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 3/3. Onset: Infantile onset (HP:0003593). (PMID:27040691)