Males with an extra X chromosome. Individuals will have wide lips, female pubic hair distribution, a hypoplastic maxilla, taurodontism, and male cell and chromosomes with a Barr body. Results in occasional midface deformity, testosterone deficiency, small gonads, and gynecomastia.
Non-disjunction of chromosome 21. Slanted eyes, fissured tongue, some cases of hypodontia, premature tooth loss, gingival and periodontal disease, and hyperglossia.
Female phenotype with 1 x chromsome. They are short have webbing of the neck, edema of hands and feet. They are a female with no Barr body. Infantile development of female genitalia and organs. Low hairline on nape of neck and deformed nails and ears. High palatal vault, micrognathia
Disease in which episodic defects in neutrophil maturation in the bone marrow result in periodic decreases in circulating neutrophils. Cycles of decreased # of circulating neutrophils occurring every 21-27 days. Fever, malaise, sore throat, occasional cutaneous infections, respiratory tract infections, ulcerative gingivitis or gingivostomatitis, may lead to perio disease and early tooth loss. Occasional ulcers of the tongue or oral mucosa. Active for a 5 day period every month.
Papillion Lefevre Syndrome
Normal at birth and primary teeth erupt normally, but by age 1 1/2 to 2 years pts. start to have perio problems. There is marked destruction of perio tissues and permanent teeth are lost by age 14. Palmar Plantar Keratoderma (hyperkeratosis) is a distinguishing feature of this disease. Begins as red and scaly as it matures may appear furry and brown or black.
Seen in several inherited syndromes, but can also be an isolated condition. Gingival hypertrophy. Firm tissue with granular corrugated surface, pale due to increased keratinization
Syndrome with gingival fibromatosis. Dysplastic or absent nails, malformed nose and ears, hepatosplenomegaly, hypoplasia of terminal phalanges, excessive hair growth.
Gingival Fibromatosis, Hypertrichosis, Epilepsy, and Mental Retardation Syndrome
Excessive hair growth especially eyebrows, extremities, genitals, and sacral region. Presents with epilepsy, mental retardation and gingival fibromatosis.
Gingival Fibromatosis with Multiple Hyaline Fibromas
Also known as the Murray-Puretic Drescher Syndrome. Characterized by hypertrophy of nail beds and multiple hyaline fibrous tumors developing on the nose, chin, head, back, fingers, thighs, and legs along with gingival fibromatosis.
Contains fibro-osseus lesions of the jaw, involving more than one quadrant that stabilizes after the growth period, usually leaving some facial deformity and malocculsion. Mostly affects mandible, but can occur in maxilla. Hypertelorism- wide spread eyes due to midface involvement. X-ray soap bubble appearance of bone. Radiolucencies are occupied by fibrous CT with multinucleated giant cells. Bone lesions interfere with tooth development and eruption. Plateaus at puberty. Lesions are symmetrical and deformities remain for life. Can be confused with giant cell tumors.
Also known as Ellis von Creveld Syndrome. Dwarfism. 1/3 are mentally disabled. Show occasional polydactyly and curvature of legs or feet. 50% have congenital heart defects. Fusion of the anterior gingiva to upper lip from canine to canine causing "v" shaped midline upper lip defect. Thick frenum on mandible traversing alveolar ridge. Natal teeth, abnormal centrals, sometimes missing and conical teeth and enamel hypoplasia.
Fontanels remain open creating a mushroom shaped cranium. X-ray lacks or has hypolastic sinuses. Neck is long and narrow because of unilateral or bilateral aplasia or hypoplasia of the clavicles. Premaxilla is often underdeveloped causing pseudo Class 3 malocclusion. Depressed midface and prominent chin. Deciduous teeth can fail to exfoliate and supernumerary teeth are often present. There can be multiple cysts.
Osteomas in multiple bones especially frontal, maxilla and mandible. Multiple odontomas are often found. Intestinal polyps are also found which become malignant usually by age 30 and after. Malignant transformation is inevitable.
Treacher Collins Syndrome
Mandibulo-Facial Dysostosis. Downward sloping of palpebral fissures. Hypoplastic nose, mandible and molars. Hypoplasia or absence of zygomatic process. Abnormal misplaced ears, receding chin, fish like mouth. Deafness is usually present since the otic ossicles fail to form. Flat condyles, obtuse mandibular angle, open bite, and high or cleft palate.
Nevoid Basal Cell Carcinoma
Gorlin's Syndrome. Hypertelorism (eyes far apart). Prognathism. Basal cell carcinoma (nevoid pigmented lesions. Pits in palms of hands and soles of feet; fill with debris and look like pigmented spots. Multiple cysts of jaws (odontogenic keratocysts). Occasional ameloblastomas, bifid or splayed ribs. Spina bifida and kyphoscoliosis.
Abnormally formed bones which fracture easily. Multiple fractures seen in young infants. Triangular head with multiple skeletal abnormalities. Blue sclera of the eyes and dentinogenesis imperfecta. Disease of bone due to a basic alteration in the formation of bone CT matrix.
Common in different syndromes. Polygenic, many genes working together. Can also be related to environmental factors. Associated with missing or peg laterals. Has many forms: bifid uvula, cleft lip, cleft palate, cleft lip and palate and lip pits.
Hereditary Hemorrhagic Telangiectasia
Osler rendu weber syndrome. Characterized by many capillary dilations of the skin and mucous membranes. Affects lips, eyelids, around the nose, scalp and ears. Can be seen in nasal mucosa and increase frequency of nosebleeds. Most common intraorally on tip and dorsal of the tongue.
Multiple Endocrine Neoplasia
MEN 2B. Medullary cancer of the thyroid occurs in 75% of all cases. Patients are tall with thick large lips, and everted upper lids. Neuromas form on lips and anterior dorsal tongue. Oral neuromas may be the first sign of the disease.
Von Recklinghausen's Disease
Multiple neurofibromas of skin, mucosa and associated cafe au lait pigmentations of the skin with the potential for producing disfigurement and malignant transformation. If occurs in oral cavity most likely on the lateral borders of the tongue. Cafe au lait occurs in 90% of patients.
Gastrointestinal polyps that rarely undergo malignant transformation. Multiple melanotic macular papules of the skin and mucosa especially around the eyes, nose and mouth. Diagnosis is usually made by age 20-30.
White Sponge Nevus
Produces soft, spongy type of clinical leukoplakia. Starts early in childhood and increases during life. History provides diagnosis and avoids need for bx. Corrugated white soft folding mucosa. Usually bilateral, always on the buccal mucosa. Occasionally desquamative. Not ever on free gingiva.
Amelogenesis Imperfecta type 1
Hypoplasia: pits within enamel.
Amelogenesis Imperfecta type 2
Hypocalcified: normal thickness, poorly calcified.
Amelogenesis Imperfecta type 3
Hypomaturation: snow capped, mottled enamel of normal thickness.
Amelogenesis Imperfecta type 4
Hypoplastic: Hypomaturation: thin enamel, yellow, brown, pitted.
First form is related to OI. Appearance in each form is similar. Bulbous crowns may form with brown to brownish blue color. No pulp chamber or very small canals on x-ray. Short thin roots. Early loss or chipping of soft and unsupported enamel and early attrition.
Dentinal Dysplasia Type 1
Radicular. More common. Normal crown, short root, total or partial lack of pulp chamber and canal, early exfoliation.
Dentinal Dysplasia Type 2
Coronal. Affects primary teeth more than permanent teeth. Translucent teeth with amber color, lack pulp, small short roots, normal appearing permanent teeth.
Hypohydrotic Ectodermal Dysplasia
Most severe form of ectodermal dysplasia. Hypodontia, hypotrichosis (little hair), and hypohydorsis (lack of sweat glands). Marked frontal bossing, depressed nasal bridge, protuberant lips, lack of scalp hair. Increased pigmentation around eyes and mouth often missing eyebrows and eyelashes. Incisors and canines have small conical crowns. Alveolar bone only forms where teeth form. May have decreased salivary glands.