- Labial hypoplasia (HP:0000066, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 4/6. (PMID:18297069)
- Rectovaginal fistula (HP:0000143, a Human Phenotype Ontology term): The presence of a fistula between the vagina and the rectum. Evidence: PCS. Frequency: 2/7. (PMID:18297069;PMID:28225384)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 7/7. (PMID:18297069;PMID:28225384)
- Toe syndactyly (HP:0001770, a Human Phenotype Ontology term): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: 6/6. (PMID:18297069)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 7/7. (PMID:18297069;PMID:28225384)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: 4/6. (PMID:18297069)
- Spina bifida occulta (HP:0003298, a Human Phenotype Ontology term): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- Narrow nose (HP:0000460, a Human Phenotype Ontology term): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: TAS. (OMIM:300707)
- Septate vagina (HP:0001153, a Human Phenotype Ontology term): The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. Evidence: PCS. Frequency: 2/6. (PMID:18297069)
- Bicuspid aortic valve (HP:0001647, a Human Phenotype Ontology term): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Single transverse palmar crease (HP:0000954, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- Broad forehead (HP:0000337, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: IEA. (OMIM:300707)
- Bicornuate uterus (HP:0000813, a Human Phenotype Ontology term): The presence of a bicornuate uterus. Evidence: PCS. Frequency: 3/7. (PMID:18297069;PMID:28225384)
- Thin upper lip vermilion (HP:0000219, a Human Phenotype Ontology term): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. (OMIM:300707)
- Broad nasal tip (HP:0000455, a Human Phenotype Ontology term): Increase in width of the nasal tip. Evidence: TAS. (OMIM:300707)
- Crossed fused renal ectopia (HP:0004736, a Human Phenotype Ontology term): A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- X-linked dominant inheritance (HP:0001423, a Human Phenotype Ontology term): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:18297069)
- Duane anomaly (HP:0009921, a Human Phenotype Ontology term): A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- 3-5 toe syndactyly (HP:0010716, a Human Phenotype Ontology term): Syndactyly with fusion of toes three to five. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- Craniosynostosis (HP:0001363, a Human Phenotype Ontology term): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 2/6. (PMID:18297069)
- Vesicoureteral reflux (HP:0000076, a Human Phenotype Ontology term): 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: PCS. Frequency: 4/6. (PMID:18297069)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- Hydroureter (HP:0000072, a Human Phenotype Ontology term): The distention of the ureter with urine. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Hypoplasia of the bladder (HP:0005343, a Human Phenotype Ontology term): Underdevelopment of the urinary bladder. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Lop ear (HP:0000394, a Human Phenotype Ontology term): Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. Evidence: PCS. Frequency: 4/6. (PMID:18297069)
- 4-5 toe syndactyly (HP:0004692, a Human Phenotype Ontology term): Syndactyly with fusion of toes four and five. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- Valvular pulmonary stenosis (HP:0034350, a Human Phenotype Ontology term): A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Small for gestational age (HP:0001518, a Human Phenotype Ontology term): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Telecanthus (HP:0000506, a Human Phenotype Ontology term): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 5/7. (PMID:18297069;PMID:28225384)
- Peripheral pulmonary artery stenosis (HP:0004969, a Human Phenotype Ontology term): Stenosis of a peripheral branch of the pulmonary artery. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 6/6. (PMID:18297069)
- Clitoral hypertrophy (HP:0008665, a Human Phenotype Ontology term): Hypertrophy of the clitoris. Evidence: PCS. Frequency: 3/7. (PMID:18297069;PMID:28225384)
- 3-4 toe syndactyly (HP:0009779, a Human Phenotype Ontology term): Syndactyly with fusion of toes three and four. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Pelvic kidney (HP:0000125, a Human Phenotype Ontology term): A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): 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: 1/6. (PMID:18297069)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: 1/6. (PMID:18297069)
- Bilateral talipes equinovarus (HP:0001776, a Human Phenotype Ontology term): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 2/6. (PMID:18297069)
- Patent foramen ovale (HP:0001655, a Human Phenotype Ontology term): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/6. (PMID:18297069)
- Wide nose (HP:0000445, a Human Phenotype Ontology term): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: PCS. Frequency: 1/1. (PMID:28225384)
These phenotypes are associated with the disease syndactyly-telecanthus-anogenital and renal malformations syndrome (OMIM:300707, an entry in Online Mendelian Inheritance in Man).