The seminar: DYSMORPHOLOGY

Tutor: Marzena Wisniewska, M.D., Ph.D.

Dysmorphology – is the recognition and study of birth defects and syndromes.

The term “dysmorphic” is used to describe children whose physical features are not usually found in a child of the same age or ethnic background. Some features are abnormal in all circumstances, e.g. premature fusion of the cranial sutures, whereas other features may be a non-significant familial trait, e.g. 2/3 toe syndactyly.

Dysmorphology examination checklist: Growth parameters – according to centile charts: height, weight, upper limbs, lower limbs  short stature  gigantism – proportionate or disproportionate

Anomalies: Macrosomia – too big stature Microsomia – too small stature Hemihypertrophy – asymmetric half of the body or a single limb

Cranium  OFC – occipital – frontal circumference  symmetry  cranial sutures  fontanelle

Anomalies: Microcephaly – abnormally small head, OFC < 3 SD Macrocephaly – abnormally large head Hydrocephalus – impared circulation and absorption of cerebrospinal fluid Craniostenosis – premature fusion of all sutures Craniosynostosis – premature fusion of one suture – change of skull shape: Scaphocephaly (dolicocephaly) – increased lenght compared to width of skull (saggital synostosis) Brachycephaly – flattening of the occiput with increased width compared to lenght of the skull (bilateral coronal synostosis) Plagiocephaly – asymmetry of the head shape (unilateral coronal or lambdoid synostosis) Trigonocephaly – the forehead assumes a triangular shape (metopic synostosis) Oxycephaly – narrow „tower”-shape skull (coronal or multisuture synostosis) Clover leaf skull – premature fusion of all the cranial sutures Craniotabes – softening of the cranium, malacia Anencephaly – no development of the forebrain Acrania – no cranium Meningocele – spina bifida Encephalocele – outpouching of the brain through a bony defect Wormian bone – small irregular bone in the suture between the bones of the skull

Face  overall impression  similarity to other members of the family !!!  „en face” evaluation  profil  coarse face  Potter face (flattened) because of oligohydramnion

Ears  pre-auricular region (pits or tags)  size and position  structure e.g.creases

Anomalies: Microtia – very small external ear Anotia – complete absence of the external ear Dysplastic ear – loosely used to describe any form of ear malformation Low-set ear – the upper attachment of the ear is below a line connecting the outer canthus of the eye and the occiput Posteriorly rotated ear – the longitudinal axis of the ear is rotated towards the occiput

Eyes  size of eyes  sparing  palpebral fissures  eyebrows

Anomalies: Slanted palpebral fissures: mongoloid set of eyes (upslanting), antimongoloid (downslanting) Epicanthus – congenital fold of skin medial to the eye, covering the inner canthus Ptosis – drooping of the eyelids Synophrys – fussed eyebrows Hypertelorism – increased interpupillary distance, wide-set eyes Hypotelorism – decreased interpupillary distance, eyes close together Telecanthus – increased distance between the inner canthi of the eyes Cyclopia – one eye Anophthalmis – complete absence of one or both eyes Microphthalmia – small eye Cryptophthalmos – covering of the globe of the eye by skin Blepharophimosis – short palpebral fissure Plamki Brushfielda – mottle, marbled, or speckled elevation of the iris due to increased density of the anterior border layer of the iris Coloboma oculi – congenital fissure of the eye, may involve iris and/or retina or eyelid Aniridia – absence of the iris Heterochromia iridis – unequal colour of the irises Lisch nodule – iris freckles that project above the surface of the iris, hamartomatous iris structure seen in NF1

Nose  nasal bridge  nasal tip  nares  philtrum  nasal root

Anomalies: Flat nasal bridge Proboscis – abnormal small nose seen in holoprosencephaly Arrhinia – congenital absence of the nose Choanal atresia – closure of the posterior nasal openings Bulbous nose, beaked nose Hypoplastic alae nasi Bifid nasal tip High nasal root Long, short, smooth philtrum

Mouth, oral region  size, symmetry of lips  tongue  palate  frenulum  teeth, gums

Anomalies: Macrognathia – abnormally big mandible Micrognathia – abnormally small mandible giving a small chin Prognathism – prominence of the jaw leading to an unusually prominent chin Retrognathia – receding chin Microgenia – abnormally small maxilla Microstomia – small mouth Macrostomia – abnormally big mouth Lingua geographica – mappy tongue Lingua plicata – fissured tongue Lingua scrotalis – furrowed, scrotal tongue Macroglossia – enlargement of tongue Microglossia – abnormally small tongue Palatoschisis – cleft palate Cheiloschisis – cleft lip Hypodontia – reduced number and or size of teeth Anodontia – abcence of teeth Oligodontia – reduced number of teeth

Neck, chest, abdomen, back  length  shape  movement  symmetry  nipples

Anomalies: Torticolis – wry neck, restriction of movement Pterygium colli – webbed neck, wing-shape web Pectus excavatum – undue depression of the sternum, a funnel chest, cobbler’s chest Pectus carinatum – undue prominence of the sternum, a pigeon chest Omphalocele – the intestines protrude through a defect in the abdominal wall at the umbilicus Gastroschisis – congenital fissure of the anterior abdominal wall Myelomeningocele – spina bifida Inverted, supernumerary nipples

Genitalia, anus  anorectal region  size of genitalia

Anomalies: Macrophallus – abnormally big penis, macropenis Microphallus – abnormally small penis, micropenis Cryptorchidism – undescended testes Hermaphroditism – ambiguous genitalia Hypospadias – abnormal location of the urethal meatus on the ventral surface of the penis Macroorchidism – big testes Atresia ani – absent or closed anus

Skin, hair  pigmentation  birth marks, neurocutaneous stigmata  elasticity, streching, scars  hair line, hair whorls

Anomalies: Cafe-au-lait spots – macular area of coffee-coloured pigmentation > 0.5cm in diameter Cutis laxa – loose skin Mole – circumscribed area of darkly pigmented skin, which is often raised Portwine naevus – dark angioma that can be purple in colour Stork mark – pink vascular mark localized over the middle of the forehead, or nape of the neck in the newborn Vitiligo – melanosomes are selectively destroyed Lentigo – freckles; round or oval, flat, brown, pigmented skin spots Widow’s peak – pointed frontal hairline in the midline Hypertrichosis - excessive body hair that is long and often involves the face Hirsutism – excessive body and facial hair Hyponychia – small dysplastic nails Pachonychia – thickened nails Koilonychia – spoon-shaped nails

Limbs  length  symmetry  joints  mobility

Anomalies: Amelia – complete absence of one or more limbs from the shoulder or pelvic girdle Phocomelia, meromelia – partial absence of one or more limbs Adactyly – complete absence of fingers Genu varum – inward deviation of the knee; knock-knee Genu valgum – outward bowing of the knee; bow-leg Simian crease – single palmar crease Clinodactyly – lateral or medial curve of one or more fingers or toes away from the third finger Brachydactyly – short fingers Camptodactyly – bent fingers, contractures of the fingers Arachnodactyly – long slender fingers and toes, spider digits Ectrodactyly – split hands or split foot Polydactyly – extra digits Syndactyly – webbing or fusion of fingers or toes Macrodactyly – abnormally large digit Microdactyly – abnormally small digit Oligodactyly – reduced number of fingers