- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1521)
- Wide nose (HP:0000445): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1521)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1521)
- Craniosynostosis (HP:0001363): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1521)
- Midline nasal groove (HP:0004112): An abnormal groove on the midline of the nose that may extend to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1521)
- Aplasia/Hypoplasia involving bones of the skull (HP:0009116). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1521)
- Bifid uterus (HP:0000136): The presence of a bifid uterus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Short lingual frenulum (HP:0000200): The presence of an abnormally short lingual frenulum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- High palate (HP:0000218): 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). (ORPHA:1521)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464): Absence or underdevelopment of the muscles of the shoulder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Diastasis recti (HP:0001540): A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Unilateral brachydactyly (HP:0006008). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Aplasia/Hypoplasia of the nipples (HP:0006709). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Asymmetry of the nares (HP:0009930): Asymmetry or size difference between the left and right nostril. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Unilateral hypoplasia of pectoralis major muscle (HP:0011959): Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Abnormal reproductive system morphology (HP:0012243): A structural or developmental anomaly of any of the tissues involved in the genital system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Vertical orbital dystopia (HP:0030867): The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1521)
These phenotypes are associated with the disease Craniofrontonasal dysplasia-Poland anomaly syndrome (ORPHA:1521).