Syndrome Flashcards
Features of Marfan’s syndrome
Fibrillin pathology- crowded teeth, archanodactyly, pes excavatum, pes carinatum, kyphoscoliosis, lens dislocation, retinal detachement, glaucoma, cataracts, mitral valve prolapse, aortic dissection, aortic regurgitation, migraine
Features of Ehler’s Danlos syndrome
joint hypermobility, orthostatic intolerance, urinary incontinence, and diarrhea, muscle weakness, hyperelastic skin, multiple subluxations, bruises easily, hypodontia of permanent teeth, delayed eruption, and dentin dysplasia, Absence of the inferior labial or lingual frenula, cutaneous metaplastic synovial cysts, GI symptoms
Types of Ehler’s Danlos syndrome
Type I and II (classical)- autosomal dominant
Type IV- vascular
Type VI (kyphoscoliosis)- austosomal recessive
Features of Stickler’s syndrome
multisystem collagenopathy(II, IX, and XI). most common forms are autosomal dominant (AD), other forms are inherited in an autosomal recessive (AR) manner.
micrognathia, cleft palate, sensorineural and conductive hearing loss, or early onset osteoarthritis, evere myopia to retinal detachment and vision loss, glaucoma, cataracts, flattened face (mid face hypoplasia), scoliosis, kyphosis, and platyspondyly, joint hypermobility
Features of Weill-Marchesani Syndrome
Autosomal dominant (FBN1-related) and recessive(ADAMTS10-, ADAMTS17-, and LTPBP2-related):
characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects.
microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma,
Churg-Straus syndrome (eosinophilic granulomatosis with polyangiitis)
4/6:
Asthma
Eosinophilia >10%
Mononeuropathy and Polyneuropathy
Pulmonary infiltrates
Paranasal sinus abnormalities
Histological evidence of extravascular eosinophils
pANCA positive
Affects lungs, nerves and skin
Is a small-vessel necrotizing granulomatous disease
Caplan’s syndrome
Pneumoconiosis with rheumatoid nodules
Klinefelter syndrome
Klinefelter syndrome (KS) results from 2 or more X chromosomes in a phenotypic male. (47 XXY)
The clinical phenotype of KS was first described in males with tall stature, small testes, gynecomastia, and azoospermia, with the genetic etiology of supernumerary X chromosomes identified in 1959.
Extra X chromosomes lead to testicular hyalinization, fibrosis, and testicular hypofunction, resulting in genital abnormalities, usually hypogonadism, and infertility. Neurocognitive differences associated with KS began to be recognized in the middle and latter of the 20th century. Often, androgen replacement and neuropsychological and adaptive therapies are beneficial in the medical management of KS.
Kallman Syndrome
Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. Most patients have gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy.
Hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. (See the image below.) By definition, either anosmia (lack of sense of smell) or severe hyposmia is present in patients with Kallmann syndrome, in contrast to patients with idiopathic hypogonadotropic hypogonadism, whose sense of smell is normal.
Turner Syndrome
Turner syndrome (45X) is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants. Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome.
Dental: A high arched palate, sometimes with dental crowding or malocclusion
Nails: Hypoplastic or hyperconvex nails
Nevi: Excessive numbers of nevi, when compared to other family members
Webbed neck: A broad neck and a low or indistinct hairline
Cubitus valgus (increased carrying angle)
Madelung deformities of the wrist
Short fourth and fifth metacarpals and metatarsals
Shield chest: The chest appears to be broad with widely spaced nipples
Lymphedema
Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness
Ears: Serous otitis media is more common [5] ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults
GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased
Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature
Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings
Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart [6] , coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood
Thyroid: Hypothyroidism develops in 10-30% of patients [7] and is often associated with thyroid enlargement
Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy
Testicular féminisation
Testicular feminization, also known as androgen insensitivity syndrome (AIS), is a rare genetic disorder that causes some physical characteristics of a female in a person with a male genetic makeup:
Explanation
People with AIS have a normal male karyotype, but are resistant to hormones that produce a male appearance. This results in a failure to develop masculine traits in the womb and at puberty.
Scheuermann’s disease
self-limiting condition of childhood with uneven wedging of vertebral bodies leading to significant kyphosis
Bartter syndrome
hypokalemic metabolic alkalosis with low or normal BPs
Liddle Syndrome
hypokalemic metabolic acidosis with HTN
Serotonin syndrome
rigidity, hyperthermia, myoclonus, hyperreflexia, sweating
Pseudoxanthoma elasticum (PXE)
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by elastorrhexia, or progressive calcification and fragmentation, of elastic fibers primarily affecting the skin, the retina, and the cardiovascular system.
Cutaneous changes are usually the first manifestation of pseudoxanthoma elasticum (PXE), classically arising on the lateral aspect of the neck. They are generally asymptomatic but may be of cosmetic concern.
Extracutaneous presentations include mucosal involvement leading to gastrointestinal hemorrhage with melena, frank bleeding, occult blood in the stool, or hematemesis.
Patients may report fatigue from chronic blood loss or claudication from blood vessel involvement.
Slowly, as the disease progresses, patients note more severe cutaneous and cardiovascular manifestations, such as angina and hypertension.
Hematuria has also been reported.
Retinal hemorrhages with loss of central vision are common after the fourth decade of life.
Wolfram syndrome
Diabetes insipidus and deafness can be symptoms of Wolfram syndrome, a rare genetic disorder that also causes diabetes and optic atrophy. Wolfram syndrome is also known as DIDMOAD, which stands for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Symptoms:
Diabetes insipidus
Caused by the pituitary gland not producing enough vasopressin, a hormone that controls water balance and urine production. People with diabetes insipidus produce large amounts of urine.
Deafness
Sensorineural hearing loss caused by changes in the inner ear. People with Wolfram syndrome may have difficulty hearing low tones.
Diabetes mellitus
Usually the first symptom of Wolfram syndrome, and often requires insulin replacement therapy.
Optic atrophy
Usually the second symptom of Wolfram syndrome, and causes loss of color vision and peripheral vision. Vision problems worsen over time, and people with optic atrophy are usually blind within about 8 years.
Causes:
Wolfram syndrome is caused by mutations in the WFS1 gene, which is located on the short arm of chromosome 4.
The mutations can be severely inactivating, which results in a more severe phenotype.
Other symptoms:
Urinary tract problems
Hypogonadism, which is reduced amounts of testosterone in males
Neurological or psychiatric disorders
Autonomic nervous system degeneration
Fabry’s disease
x-linked (men pass to daughter)
Wilson’s Disease
diagnosed by identification of the ATP7B gene
Defect in Ehler’s Danlos Syndrome
ADAMSTS-2 gene
COL3A1-vascular type
COL5A1-classical type
PLOD-1- kyphoscoliosis type
