Elements of morphology: standard terminology for the head and face

Abstract

An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the craniofacies and define and illustrate the terms that describe the major characteristics of the cranium and face.

FIG. 1

An antero-posterior view of the cranium and face shows bony landmarks.

FIG. 2

A lateral view of the cranium and face shows bony landmarks.

FIG. 3

Anthropological landmarks of the face, frontal view, which are described in this paper.

FIG. 4

Anthropological landmarks of the face, lateral view, which are described in this paper.

FIG. 5

Brachycephaly: The skull has a reduced antero-posterior dimension with the back of the head appearing to have reduced convexity.

FIG. 6

Dolichocephaly. The skull has an increased antero-posterior dimension. Scaphocephaly is demonstrated on the right. Note that this subtype of dolichocephaly is “boat-shaped” with pointed anterior and posterior aspects of the cranial vault.

FIG. 7

Macrocephaly. Note the increased size of the cranium. Differences in size are difficult to appreciate but increased head size in this child is notable because of comparison with the smaller face.

FIG. 8

Microcephaly. Decreased size of the cranium is accompanied by marked posterior sloping of the forehead.

FIG. 9. Occiput, flat

There is reduced convexity of the occiput giving an appearance of flattening of the back of the skull.

FIG. 10. Occiput, prominent

The posterior part of the skull shows increased convexity.

FIG. 11

Plagiocephaly. There is asymmetry of head shape: Note that one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. These figures are kindly provided by John Graham Jr.

FIG. 12. Skull, Cloverleaf

The skull has a trilobar configuration when viewed from the front or behind.

FIG. 13

Trigonocephaly. Note the wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.

FIG. 14

Turricephaly. The head is tall head relative to its width and length. The terms acrocephaly or oxycephaly are used when there is turricephaly and the top of the skull assumes a cone shape (lower image).

FIG. 15. Frontal balding

Note the absence of hair in the anterior midline and/or parietal areas.

FIG. 16. Hair, frontal upsweep

Note the pattern of upward and sideward growth of anterior hair.

FIG. 17

Hair whorl, double.

FIG. 18. Hair whorl, abnormal position

The hair whorl is positioned postero-inferiorly than its usual location lateral to the midline and close to the vertex of the skull.

FIG. 19. Hairline, high anterior

The high anterior hairline contributes to an appearance of tall forehead.

FIG. 20. Hairline, low anterior

The low anterior hairline contributes to an appearance of short forehead.

FIG. 21. Hairline, low posterior

Hair on the neck extends more inferiorly than usual, particularly in the lateral aspects.

FIG. 22. Scalp hair, sparse

Hair density is reduced giving a thinned appearance.

FIG. 23. Widow’s peak

Frontal hairline shows bilateral arcs to a low point in the midline of the forehead.

FIG. 24. Face, broad

An increased width of the upper and lower face.

FIG. 25. Face, coarse

Facial features lack the usual fine and sharp appearance and are rounded and heavy with thickened skin, subcutaneous or bony tissues.

FIG. 26. Face, flat

The profile of the face is flat with no concavity or convexity.

FIG. 27. Face, long

Height (length) of the face is increased in comparison to face width. Without actual measurement it can be difficult to decide whether increased height or reduced width is real.

FIG. 28. Face, narrow

There is reduction in width of the upper and lower face. Without actual measurement it can be difficult to decide whether increased height or reduced width is real.

FIG. 29. Face, round

Facial appearance is more circular than usual.

FIG. 30. Face, short

Decreased height (length) of the face is usually appreciated in comparison to face width and it may be difficult to decide whether reduced height or increased width is present without measurement.

FIG. 31. Face, square

The upper face/cranium and lower face/mandible are both broad, creating a square appearance.

FIG. 32. Face, triangular

Facial contours are triangular in shape, with breadth at the temples tapering to a narrow chin.

FIG. 33. Forehead, broad

Note the increased distance between the two sides of the forehead.

FIG. 34. Forehead, narrow

Note the decreased distance between the two sides of the forehead with narrowing at the temples.

FIG. 35. Forehead, prominent

The entire forehead is prominent due to protrusion of the frontal bone.

FIG. 36. Forehead, sloping

The anterior surface of the forehead slopes posteriorly in an excessive manner.

FIG. 37. Forehead creases, vertical

Vertical soft tissue creases are noted in the midline of the forehead. These often extending from the hairline to the brow.

FIG. 38. Frontal bossing

There is bilateral bulging of the lateral aspects of the forehead with relative sparing of the midline.

FIG. 39. Glabella, depressed

Note the depression of the midline forehead between the supraorbital ridges.

FIG. 40. Glabella, prominent

Note prominence of the glabella, the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.

FIG. 41. Metopic depression

There is a linear vertical groove in the midline of the forehead, extending from hairline to glabella.

FIG. 42. Metopic ridge, prominent

Note the vertical bony ridge in the midline of the forehead.

FIG. 43. Supraorbital ridges, prominent

The supraorbital portion of the frontal bones protrudes forward and laterally.

FIG. 44. Supraorbital ridges, underdeveloped

The supraorbital portion of the frontal bones is less prominent than usual.

FIG. 45. Cheekbone prominence

The cheekbones overlying the zygoma of the temporal bone of the skull are more prominent than usual.

FIG. 46. Cheekbone underdevelopment

The cheekbones overlying the zygoma of the temporal bone of the skull are less prominent than usual.

FIG. 47. Cheeks, full

Note the increased prominence or roundness of the soft tissues between the cheekbones and mandible.

FIG. 48. Cheeks, sunken

Note the reduced prominence or fullness of the soft tissues between the cheekbones and mandible.

FIG. 49. Malar flattening

Note the underdevelopment of bony tissues lateral to the nasal bridge extending from the inner corner of the eye to the medial aspect of the cheekbone.

FIG. 50. Malar prominence

Note the prominence of bony tissues lateral to the nasal bridge extending from the inner corner of the eye to the medial aspect of the cheekbone.

FIG. 51. Midface prominence

Note prominence of the infraorbital and perialar regions leading to more pronounced convexity of the face and increased nasolabial angle.

FIG. 52. Midface retrusion

Note underdevelopment of the infra-orbital and peri-alar regions leading to more pronounced concavity of the face and reduced nasolabial angle. This gives the appearance of prognathia.

FIG. 53. Nasolabial fold, prominent

The crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth is more prominent than usual.

FIG. 54. Nasolabial fold, underdeveloped

The crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth is less prominent than usual.

FIG. 55. Premaxillary prominence

Note increased convexity of the face and an increased nasolabial angle giving the impression of retrognathia.

FIG. 56. Premaxillary underdevelopment

Note decreased convexity of the face and nasolabial angle giving the impression of prognathia.

FIG. 57. Jaw, broad

Note increased width of the lower jaw (mandible).

FIG. 58. Jaw, narrow

Note decreased width of the lower jaw (mandible).

FIG. 59. Mandible, cleft

There is a complete midline deficiency of the mandible on the left and deficiency of overlying tissues on the right.

FIG. 60

Micrognathia. There is shortening and narrowing of the mandible and chin.

FIG. 61

Prognathism. There is anterior protrusion of the mandible such that the alveolar ridge extends beyond the vertical plane of the maxillary alveolar ridge.

FIG. 62

Retrognathia. The lower jaw is set back from the plane of the face.

FIG. 63. Chin, broad

The midpoint of the mandible (mental protuberance) and overlying soft tissue is broader than usual.

FIG. 64. Chin dimple

Note the midline depression of the skin over the fat pad of the chin.

FIG. 65. Chin, horizontal crease

Note the horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin.

FIG. 66. Chin, H-shaped crease

Note the H-shaped crease in the fat pad of the chin.

FIG. 67. Chin, pointed

Note the marked tapering of the lower face to the chin with the two sides of the mandible meeting at an acute angle.

FIG. 68. Chin, short

Note the reduced vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.

FIG. 69. Chin, tall

Note the increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.

FIG. 70. Chin, vertical crease

Note the vertical crease in the fat pad of the chin.

FIG. 71. Neck, broad

Note the increased width of the neck.

FIG. 72. Neck, long

Note the increased distance from the point where neck and shoulders meet to the inferior margin of the occipital bone.

FIG. 73. Neck, short

Note the decreased distance from the point where neck and shoulders meet to the inferior margin of the occipital bone.

FIG. 74. Neck webbing

Note the bilateral folds of skin on the posterolateral aspect of the neck.

FIG. 75. Nuchal skin, redundant

Note the excess skin around the neck.