Syndromes (Dr. John Basile) Flashcards
Apert Syndrome (Acrocephalosyndactyly):
a) craniosynostosis-‐ premature closing of the cranial sutures
b) AD, sporadic mutations, increases with paternal age
c) acrobrachycephaly (tower skull); also have clover leaf skull
d) occular proptosis
e) hypertelorism
f) downward slanting lateral palpebral fissures
g) visual loss (chronic eye exposure, inc. intracranial pressure, compression of the optic nerve)
h) radiographs can show “beaten metal” appearance
i) hypoplastic midface-‐ lateral hard palate swelling due to accumulation of glycosaminoglycans (hyaluronic acid) which increases over time to produce a pseudocleft, respiratory distress, mouth breathing, and middle ear infections which can result in conductive hearing loss
j) limb defects unique to this syndrome-‐ syndactyly of 2nd, 3rd and 4th digits of hands and feet (synonychia). Synostosis of phlanges may be seen.
i) short stature
j) mental retardation
k) acne eruptions on the forearms
l) trapezoid shaped lips at rest
m) ¾ cleft of soft palate or bifid uvula
n) V-‐shaped arch and crowding of teeth
Ascher Syndrome:
a) double lip
b) blepharochalasis (sagging of upper eyelid at outer canthus of the eye due to edema)
c) non-‐toxic thyroid enlargement
Beckwith Wiedemann Syndrome:
a) p57 deletion
b) omphalocele (protrusion of part or all of the intestine through a defect in the abdominal wall at the umbilicus)
c) visceromegaly
d) gigantism
e) neonatal hypoglycemia
f) inc. risk of visceral tumor like Wilms, adrenal carcinoma and hepatoblastoma
g) nevus flammeus of the forehead and eyelids
h) linear indentations of the earlobes
i) maxillary hypoplasia
Brooke-‐Spiegler Syndrome:
a) familial turban tumor syndrome
b) 16q12-‐q13
Carney’s Triad:
a) extra-‐adrenal paraganglioma
b) gastric leiomyosarcoma
c) pulmonary chondroma
Cleidocranial Dysplasia (Cleidocranial Dysostosis):
a) short stature
b) broad base of the nose with depression of the nasal bridge
c) large head (frontal and parietal bossing)
d) hypoplastic midface (relative prognathism)
e) ocular hypertelorism
f) long neck with narrow drooping shoulders
g) hypoplastic or aplastic clavicles
h) supernumary teeth with distorted crowns and roots
i) delayed or failed eruption of permanent teeth
j) narrow high-‐arches palate
Cowden’s Syndrome (Multiple Hamartoma Syndrome):
a) malignancies, in addition to benign hamartomas, may
develop
b) cutaneous manifestations appear in the 2nd decade-‐ multiple small trichilemmomas (hair follicle hamartomas) of the facial skin, particularly around the nose and ears
c) acral keratosis (a warty growth on the dorsum of the hand) and palmoplantar keratosis
d) also see hemangiomas, xanthomas and lipomas
e) thyroid disease (goiter or thyroid adenoma)
f) fibrocystic disease of the breast, breast cancer at ages younger than normal (usually bi-‐lateral mastectomies are recommended before 30 years of age)
g) multiple benign hamartomatous polyps of the G.I. tract
h) benign and malignant tumors of the GU tract
i) multiple papules of the gingiva, dorsal tongue and buccal mucosa (fibroepithelial hyperplasia)
j) high arched palate
k) the presence of two out of three-‐ multiple facial trichilemmomas, multiple oral papules and acral keratosis-‐ is diagnostic (also, family history)
CREST Syndrome
(calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia):
a) autoantibodies to centromere proteins
Crouzon Syndrome (Craniofacial Dysostosis):
a) craniosynostosis-‐ premature closing of the cranial sutures
b) AD, can arise as a new mutation
c) brachycephaly (short head)
d) scaphocephaly (boat shaped head)
e) trigonocephaly (triangular shaped head)
f) cloverleaf skull
g) ocular proptosis (shallow orbits)-‐ visual impairment
h) “beaten metal” pattern to radiographs
i) mid face hypoplasia (underdeveloped maxilla with crowded maxillary teeth and swollen palate leading to pseudocleft)
Cushing’s Disease:
hypercortisolism
Darier’s Disease:
AD, high penetrance, variable expressivity
b) 2nd decade-‐ numerous erythematosus pruritic papules on the skin of trunk and scalp which have extra keratin (can be associated with a foul odor due to bacteria). It’s worse in the summer.
c) pits and keratosis in palms and soles
d) longitudinal lines and ridges on nails, painful splits in nails
e) multiple normal colored to white, flat topped papules of the mucosa that can result in a “cobblestone” appearance (hard palate and alveolar mucosa mostly, but can affect buccal mucosa or tongue). Palatal lesions can resemble papillary hyperplasia or nicotine stomatitis
f) recurrent obstructive parotid swelling
Down’s Syndrome:
a) Trisomy 21
b) enlarged tongue with papillary, fissured surface
Dyskeratosis Congenita:
) X-‐linked, becomes evident in the first 10 years of life
b) reticular skin hyperpigmentation (upper chest and neck)
c) dysplastic nail changes
d) tongue and buccal mucosa form bullae, which can lead to erosions and eventually pre-‐malignant leukoplakias (one third change to SCC in 10 to 30 years)
e) rapidly progressive periodontal disease
f) thrombocytopenia, aplastic anemia in 45% of patients)
g) mild to moderate mental retardation
h) life span of only ~32 yrs.
Eagle Syndrome (Stylohyoid Syndrome; Carotid Artery Syndrome)
a) mineralization of the stylohyoid ligament
b) facial pain when swallowing, turning head or opening mouth
c) dysphagia, dysphonic, otalgia
d) headache, dizziness and transient syncope
e) symptoms usually occur following tonsillectomy
Ectodermal Dysplasia:
a) X-‐linked; women can show partial expression (Lyon effect)
b) decreased sweat glands and hair follicle in the skin
c) fine, sparse blond hair
d) decreased density of eyebrow and lash hairs
e) wrinkling and hyperpigmentation of perioccular skin
f) mid-‐face hypoplasia
g) varying degrees of xerostomia
h) dystrophic, brittle nails
i) oligo or hypodontia
j) abnormal crown shapes to the teeth (tapered or conical, pointed incisors and a decreased diameter to molar crowns)
Ehler-‐Danlo’s Syndrome:
a) abnormal collagen production
b) hypermotility of joints, easy bruising and skin elasticity
c) Type I (severe) and II (mild) are AD; “papyraceous scarring”
d) Type III-‐ joint hypermobility but no scarring
e) Type IV-‐ ecchymotic type, showing bruising to everyday trauma and formation of aortic aneurysm, with a decrease in life expectancy
f) “Gorlin Sign”-‐ touching the tip of the nose with the tongue
g) subluxation of the TMJ
h) no correlation with changes in tooth morphology
i) pulp stones (like in dentin dysplasia, type II)
Type VIII - severe periodontal disease
Ellis-‐van Creveld syndrome (chondroectodermal dysplasia)
a) Fusion of the upper or lower lip to the gingiva
b) Absence of mucobucccal fold and fibrous bands
b) Median cleft of upper lip
c) Natal teeth
- chondroectodermal dysplasia
- autosomal recessive
- mutation in EVC and EVC2
- **Median cleft lip/palate **
- Short limbs dwarfism
- Genu valgum - knees to be touching while the ankles remain apart
- Postaxial polydactyly with a complete extra metacarpal,
- Ectodermal dysplasia with hypoplastic nails and teeth,
- Structural heart disease
- enamel hypoplasia, hypodontia, conical teeth, diastema, multiple labial gingival frenulae, labiogingival adherence, submucosal clefts, taurodontism
Gardner Syndrome:
a) AD, a form of familial colorectal polyposis
b) multiple adenomatous polyps of the colon and rectum
c) multiple osteomas (of facial bones)
d) cutaneous epidermoid cysts
e) fibromas
f) odontomas, supernumary teeth, impacted teeth
Goldenhar (Oculoauriculovertebral) Syndrome:
a) congenital condylar hypoplasia
b) macrostomia
c) malformed pinnae
d) looks like hemifacial atrophy
Goltz-‐Gorlin Syndrome (Focal Dermal Hypoplasia Syndrome):
a) perioral papillomata
b) coloboma of iris
c) syndactyly
d) linear skin lesions
e) hypodontia, dysplastic enamel
f) osteopathia striae
g) angiomata
Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome):
a) AD
b) benign adnexal tumors of the skin
c) multiple BCC of the skin
d) multiple jaw OKC
e) rib anomalies
f) vertebral anomalies
g) intracranial calcifications
h) frontal and tempero-‐parietal bossing
i) hypertelorism
j) mild mandibular prognathism
k) palmar and plantar pits (with BCC at the base)
l) shortened metacarpals
m) ovarian fibromas, uterine fibroids
o) medulloblastomas
p) mental retardation
q) cardiac anomalies (valve myxoma)
Heerfordt’s Syndrome (Uveoparotid fever):
a) parotid enlargement
b) anterior uveitis
c) facial paralysis
d) fever
e) acute sarcoidosis
