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 .