- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- 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: 1/2. (PMID:28369379)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- 2-5 finger cutaneous syndactyly (HP:0005650, a Human Phenotype Ontology term): A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Gastroesophageal reflux (HP:0002020, a Human Phenotype Ontology term): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/2. (PMID:28369379)
- Long fingers (HP:0100807, a Human Phenotype Ontology term): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Upper eyelid coloboma (HP:0000636, a Human Phenotype Ontology term): A short discontinuity of the margin of the upper eyelid. Evidence: PCS. Frequency: 2/2. (PMID:28369379)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Crumpled ear (HP:0009901, a Human Phenotype Ontology term): Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Flat occiput (HP:0005469, a Human Phenotype Ontology term): Reduced convexity of the occiput (posterior part of skull). Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Choanal atresia (HP:0000453, a Human Phenotype Ontology term): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- 2-5 toe syndactyly (HP:0010715, a Human Phenotype Ontology term): Syndactyly with fusion of toes two to five. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Generalized hirsutism (HP:0002230, a Human Phenotype Ontology term): Abnormally increased hair growth over much of the entire body. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/2. (PMID:28369379)
- Low anterior hairline (HP:0000294, a Human Phenotype Ontology term): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Median cleft palate (HP:0009099, a Human Phenotype Ontology term): Cleft palate of the midline of the palate. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Short philtrum (HP:0000322, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Bilateral cryptorchidism (HP:0008689, a Human Phenotype Ontology term): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:28369379)
- 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: 1/2. (PMID:28369379)
- Brachycephaly (HP:0000248, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:28369379)
- 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: 1/2. (PMID:28369379)
- Bilateral talipes equinovarus (HP:0001776, a Human Phenotype Ontology term): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Velopharyngeal insufficiency (HP:0000220, a Human Phenotype Ontology term): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Small nail (HP:0001792, a Human Phenotype Ontology term): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:28369379)
- Wide anterior fontanel (HP:0000260, a Human Phenotype Ontology term): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Short columella (HP:0002000, a Human Phenotype Ontology term): Reduced distance from the anterior border of the naris to the subnasale. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- 2-4 finger cutaneous syndactyly (HP:0010709, a Human Phenotype Ontology term): A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Short distal phalanx of finger (HP:0009882, a Human Phenotype Ontology term): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Asplenia (HP:0001746, a Human Phenotype Ontology term): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Low hanging columella (HP:0009765, a Human Phenotype Ontology term): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Narrow chest (HP:0000774, a Human Phenotype Ontology term): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Cupped ear (HP:0000378, a Human Phenotype Ontology term): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Broad nasal tip (HP:0000455, a Human Phenotype Ontology term): Increase in width of the nasal tip. Evidence: PCS. Frequency: 2/2. (PMID:28369379)
- Short clavicles (HP:0000894, a Human Phenotype Ontology term): Reduced length of the clavicles. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Overfolded helix (HP:0000396, a Human Phenotype Ontology term): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Broad neck (HP:0000475, a Human Phenotype Ontology term): Increased side-to-side width of the neck. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Underdeveloped nasal alae (HP:0000430, a Human Phenotype Ontology term): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Cerebellar hypoplasia (HP:0001321, a Human Phenotype Ontology term): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Prominent metopic ridge (HP:0005487, a Human Phenotype Ontology term): Vertical bony ridge positioned in the midline of the forehead. Evidence: PCS. Frequency: 2/2. (PMID:28369379)
- Uplifted earlobe (HP:0009909, a Human Phenotype Ontology term): An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Widow's peak (HP:0000349, a Human Phenotype Ontology term): Frontal hairline with bilateral arcs to a low point in the midline of the forehead. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/2. (PMID:28369379)
These phenotypes are associated with the disease Sweeney-Cox syndrome (OMIM:617746, an entry in Online Mendelian Inheritance in Man).