- Triangular face (HP:0000325, a Human Phenotype Ontology term): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Macrotia (HP:0000400, a Human Phenotype Ontology term): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Protruding ear (HP:0000411, a Human Phenotype Ontology term): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Bulbous nose (HP:0000414, a Human Phenotype Ontology term): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Sparse eyelashes (HP:0000653, a Human Phenotype Ontology term): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- 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: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- 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: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Sparse hair (HP:0008070, a Human Phenotype Ontology term): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- 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: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Short metacarpal (HP:0010049, a Human Phenotype Ontology term): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Cone-shaped epiphysis (HP:0010579, a Human Phenotype Ontology term): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Short metatarsal (HP:0010743, a Human Phenotype Ontology term): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Long upper lip (HP:0011341, a Human Phenotype Ontology term): Increased width of the upper lip. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Shortening of all phalanges of fingers (HP:0011910, a Human Phenotype Ontology term): Abnormal reduction in length affecting all phalanges. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Sparse eyebrow (HP:0045075, a Human Phenotype Ontology term): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:77258)
- Abnormality of the dentition (HP:0000164, a Human Phenotype Ontology term): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Pectus carinatum (HP:0000768, a Human Phenotype Ontology term): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Fragile nails (HP:0001808, a Human Phenotype Ontology term): Nails that easily break. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Leukonychia (HP:0001820, a Human Phenotype Ontology term): White discoloration of the nails. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Hyperlordosis (HP:0003307, a Human Phenotype Ontology term): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Avascular necrosis of the capital femoral epiphysis (HP:0005743, a Human Phenotype Ontology term): Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Supernumerary tooth (HP:0011069, a Human Phenotype Ontology term): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
- Camptodactyly of finger (HP:0100490, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:77258)
These phenotypes are associated with the disease Trichorhinophalangeal syndrome type 1 (ORPHA:77258, an Orphanet rare-disease identifier).