Facial Dysmorphology
This article lists a syndrome-centered reference for key facial dysmorphologies in the context of musculoskeletal and neuropathic pain conditions. The most important facies to recognise as a Musculoskeletal Physician are Coarse Facies, Dolichocephaly, Micrognathia, Midface Hypoplasia, and Triangular Facies, and Hypertelorism
See https://genetics.pediatrics.med.ufl.edu/teaching-resources/facial-dysmorphology/ for a good introduction
Terminology
Dysmorphology: the study of human congenital defects and abnormalities of body structure that originate before birth.
Dysmorphic: physical features that are not normally found in individuals with the same age or ethnicity
Malformation / anomaly: primary defect where there is a basic alteration of structure (e.g. clef palate, anencephaly, limb agenesis)
Malformation sequence: A pattern of multiple defects resulting from a single primary malformation (e.g. tapes plus hydrocephalus in the presence of lumbar myelomeningeocele)
Malformation syndrome: A pattern of features, often with an underlying cause, that arises from several different errors in morphogenesis
Association: a group of anomalies that occur more frequently than would be expected by chance alone but that do not have a predictable pattern or unified etiology (e.g. VATER association)
Deformation: Distortion by a physical force of an otherwise normal structure. (e.g. contractures of limbs and talipes)
Disruption: Destruction of a tissue that was previously normal. (e.g. amniotic bands)
Dysplasia: Abnormal cellular organization within tissue resulting in structural changes. (e.g. achondroplasia)
Findings Suggestive of underlying Aetiology
- Short or tall stature (height below or above 3SD)
- Failure to thrive or obesity in children (height and weight below or above 3SD)
- Unusual head shape - dolichocephaly, trigonocephaly, oxycephaly, brachycephaly, plagiocephaly, cloverleaf skull)
- Head circumference (above or below 3SD - micro/macrocephaly)
- Body proportions - short or long limbs
- Eyebrows - synophrys (fused eyebrows)
- Hypotelorism or hypertelorism (decreased or increased inner canthal distance)
- Palpebral fissures - upslanting or downslanting, short length
- Eyes - heterochromia, albinism, squint, corneal opacity, congenital glaucoma, epibulbar dermoid, bilateral ptosis
- Nose - long or short
- Ears - low set, posteriorly rotated, cupped, preauricular pit, cauliflower, microtia, skin tags
- Mouth and lips - thin tented, thick patulous, cleft, macrostomia, lip pits, microstomia
- Philtrum - short or long.
- Oral cavity - macroglossia, bifid tip, high arched or cleft palate, bifid or absent uvula, prognathism, micrognathia, pointed chin
- Hands - brachydactyly, arachnodactyly, clindactyly, syndactyly, polydactyly, camptodactyly, polysyndactyly, dysplastic nails, simian crease, abnormal flexion creases
- Other limb disorders - macrodactyly, rocker bottom feet, clasped thumb
- Skin - Hyper/hypopigmentation, facial haemangioma, cafe au lait spots, hyper elasticity, knee pterygium
- Hair - alopecia, hirsutism, hypertrichosis, abnormal hair line
- Neck - short, webbed
- Chest - Pectus carinatum or excavatum
- Nipples - widely spaced, supernumerary
- Joint mobility - hypermobility
- Joint deformities - genu varus or valgus
Syndrome-Based Index
- Loeys-Dietz Syndrome (Connective tissue disorder): Hypertelorism; malar hypoplasia, retrognathia, bifid uvula/cleft palate; craniosynostosis possible. (Also: arterial aneurysms, joint laxity, scoliosis).
- Classical Ehlers Danlos Syndrome (Connective tissue disorder): Palpebral ptosis, sunken eyes, infraorbital creases, micrognathia/retrognathia, hypoplastic auricular lobe, epicanthal folds, hypertelorism. (Also: Generalised hypermobility, dislocations, extensive widened atrophic scars, scoliosis)
- Aarskog-Scott Syndrome (Faciogenital dysplasia): Hypertelorism; round face with maxillary hypoplasia (broad nasal bridge, long philtrum); widow’s peak. (Also: short stature, shawl scrotum, cervical spine anomalies).
- Neurofibromatosis Type 1: Coarse facial features; ocular Hypertelorism; broad nasal tip; sometimes down-slanting palpebral fissures and low-set ears (especially in NF1-Noonan variant). (Also: café-au-lait spots, neurofibromas, scoliosis).
- Hurler Syndrome (MPS I): Coarse “gargoyle” facies; frontal bossing; depressed nasal bridge; widely spaced eyes; thick lips and macroglossia. (Also: stiff joints, claw hands, hepatosplenomegaly, cloudy corneas).
- Noonan Syndrome: Hypertelorism; down-slanting palpebral fissures; ptosis; low nasal bridge; webbed neck and low posterior hairline. (Also: short stature, congenital heart defects like pulmonic stenosis, pectus deformity).
- Stickler Syndrome: Midface flattening (flat cheekbones); Pierre Robin sequence (Micrognathia, glossoptosis, cleft palate) in many cases; depressed nasal bridge. (Also: high myopia, retinal detachment risk, hearing loss, early arthritis).
- Treacher Collins Syndrome: Malar hypoplasia and mandibular hypoplasia (sunken cheeks, severe Micrognathia); down-slanting eye fissures; coloboma of lower eyelids; small or malformed ears. (Also: hearing loss, normal intelligence).
- Pierre Robin Sequence (isolated or syndromic): Micrognathia; glossoptosis; U-shaped cleft palate. (Also: airway obstruction in neonate; can be part of Stickler, 22q11.2 deletion, etc.).
- Freeman-Sheldon Syndrome (Whistling face): Micrognathia; microstomia with puckered lips; “H”-shaped chin dimple; midface hypoplasia; sometimes Hypertelorism and down-slanted eyes. (Also: camptodactyly, clubfoot, scoliosis).
- Juvenile Idiopathic Arthritis (TMJ subtype): (Acquired) Retrognathia/Micrognathia developing over time in a child with JIA. (Also: arthritis in other joints, malocclusion, jaw pain, limited mouth opening).
- Marfan Syndrome: Dolichocephaly (long head); long narrow face; malar hypoplasia; enophthalmos (deep-set eyes); down-slanting palpebral fissures; retrognathia. (Also: arachnodactyly, pectus excavatum, aortic aneurysm, lens dislocation).
- Craniosynostosis Syndromes (Apert, Crouzon): Midface hypoplasia; proptosis; beaked nose. Apert: additionally syndactyly of fingers (mitten hand). Crouzon: normal hands, sometimes acanthosis nigricans in variant. (Also: cranial vault abnormalities, potential hydrocephalus).
- Down Syndrome (Trisomy 21): Flat facial profile (midface hypoplasia); flat nasal bridge; upslanting eyes with epicanthal folds; small mouth and tongue protrusion. (Also: hypotonia, short stature, single palmar crease, developmental delays).
- Achondroplasia: Frontal bossing; midface retrusion with depressed nasal bridge. (Also: disproportionate short limbs, trident hands, lumbar lordosis).
- MPS II (Hunter Syndrome): Coarse facies (similar to Hurler but no corneal clouding); broad nose with flared nostrils; thick lips and tongue. (Also: pebbly skin, joint contractures, hearing loss).
- Acromegaly: Coarse, enlarged features; frontal bossing; mandibular prognathism (enlarged jaw with spread teeth); enlarged nose; thickened lips. (Also: enlarged hands/feet, sweating, deep voice, arthritis, carpal tunnel syndrome).
- Fabry Disease: “Pseudo-coarse” features in some: prominent brow; broad nose; bushy eyebrows; thick lips. (Also: angiokeratomas, corneal opacity, acroparesthesia, renal failure).
- Osteogenesis Imperfecta: Triangular Facies (broad forehead, pointed chin); sometimes visible scleral blue hue. (Also: frequent fractures, short stature, bowed legs, hearing loss).
- Russell-Silver Syndrome: Triangular Facies (bossed forehead, small jaw); down-turned mouth; often asymmetry of face or body. (Also: intrauterine growth restriction, short stature, limb length discrepancy).
- Hallermann-Streiff Syndrome: Bird-like facies (beaked nose, small jaw giving a triangular appearance); frontal baldness; cataracts. (Also: proportionate dwarfism, dental anomalies)
