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Topic: Dwarfism stiff joint ocular abnormalities

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Dwarfism deafness retinitis pigmentosa

Dwarfism stiff joint ocular abnormalities

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	Schwartz-Jampel syndrome: Encyclopedia of Genetic Disorders
		Abnormal bone shape and poor bone growth result in decreased total height, incorrect arm and leg postures, as well as curving of the spine (scoliosis).
		These features are also due to the stiffness of the muscles that support the face and individuals with SJS appear to have a fixed facial expression.
		Abnormalities in the growth and development of the bones of the spinal column (vertebrae) lead to scoliosis that usually worsens with age.
	health.enotes.com /genetic-disorders-encyclopedia/schwartz-jampel-syndrome (2091 words)

	The Healthcare Ledger Health Dictionary (Site not responding. Last check: 2007-10-24)
		Abnormal buildup of fluid in the abdomen that causes distention.
		Abnormal growth of the body due to an excessive amount of growth hormone produced by the pituitary gland.
		Abnormal anxiety about one's health, often to the point of believing one is suffering from a serious disease.
	www.healthcareledger.com /healthdictionary.html (6963 words)

	Full Glossary
		Abnormal condition of the eye in which the spherical curve of the cornea is irregular, causing blurred vision; may be corrected with contact lenses or eyeglasses.
		It is characterized by abnormal benign growths on the skin, excessive growth of the soft tissue and bone of the limbs, and varicose veins.
		Abnormal condition of the blood vessels of the brain characterized by a blockage from an embolus or cerebrovascular hemorrhage.
	www.sparkle.usu.edu /glossary/index.asp?mode=graphic (6887 words)

	www.whonamedit.com
		Rare inheritable syndrome characterised by lentigenes, electriocardiographic conduction abnormalities, ocular hypertelorismus, pulmonary stenosis, abnormal genitalia, retardation of growth with dwarfism, and sensorineural deafness.
		A syndrome of symphalangism with fusion of the midphalangeal joints, fusion of elbow and carpal and tarsal bones; absence of the normal articular folds.
		A congenital syndrome of abnormalities of the iris microdontia, oligodontia, enamel hypoplasia, and virilisation.
	www.whonamedit.com /syndlist.cfm/193 (3462 words)

	DogHealthDictionary
		Arthritis is the wearing down of cartilage and loss of fluid that surrounds the joints, caused by over-use, injury or age.
		It is generally the result of cells in the body that multiply and spread in an abnormal manner.
		Abnormal bleeding caused by a deficiency in the clotting agents of the blood.
	maximumbull.homestead.com /DogHealthDictionary.html (1942 words)

	Answers
		Thymic abnormalities often accompany the disorder, and the tensilon test (injection of edrophonium, which is an acetylcholinesterase inhibitor) often results in improvement of symptoms.
		Joint involvement is usually symmetric, involving the proximal interphalangeal and metacarpophalangeal joints.
		Mallet finger is a flexion deformity of the distal interphalangeal joint and is generally the result of traumatic rupture of the extensor tendon of the distal phalanx.
	www.rashaduniversity.com /answers2.html (18387 words)

	Lysosomal Storage Disease from Neurology / Pediatric Neurology (Site not responding. Last check: 2007-10-24)
		Excretion of dermatan sulfate and heparan sulfate in the urine is increased in a ratio of 2 to 1.
		Skeletal abnormalities are described as dysostosis multiplex with a large skull with thickened calvarium, premature closure of the lambdoidal and sagittal sutures, shallow orbits, enlarged J-shaped sella, abnormal spacing of teeth with dentigerous cysts, and anterior hypoplasia of lumbar vertebra with kyphosis.
		Joints are stiffened, and the skeletal abnormalities are most pronounced in the hands, with claw hand deformity.
	users3.ev1.net /~drtony/lysozone.htm (6675 words)

	[No title]
		NEM is a non-progressive myopathy characterized histologically by abnormal threadlike structures in muscle cells, and clinically by hypotonia with diffuse weakness of the limb and trunk, usually beginning in infancy.
		Joubert syndrome is an autosomal recessive brain congenital malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles.
		Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue.
	pevsnerlab.kennedykrieger.org /flatfiles/swissprot-output-10.txt (20299 words)

	Jansen Type Metaphyseal Chondrodysplasia
		Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals and metatarsals).
		In most cases, infants with Jansen type metaphyseal chondrodysplasia have characteristic facial abnormalities that are present at birth (congenital) including an unusually small jaw (micrognathia); receding chin; highly-arched roof of the mouth (palate); unusually wide fibrous joints between bones of the skull (cranial sutures); and/or prominent, widely spaced eyes (ocular hypertelorism).
		Skeletal abnormalities may include bowed legs; abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis); malformations of the bones of the spine, pelvis, and legs; and/or, in severe cases, abnormal side-to-side (horizontal) depression of the lower portion of the chest cavity (Harrison Groove).
	hw.healthdialog.com /kbase/nord/nord894.htm (2352 words)

	Parent Support for Children with Challenges - Definitions - D (Site not responding. Last check: 2007-10-24)
		Abnormal form, shape, or position of a part of the body caused by mechanical forces; prenatal deformations include abnormal foot positions related to oligohydramnios (too little amniotic fluid) or fetal central nervous system defects; plagiocephaly is a postnatal skull (cranial) deformation.
		The science or study (logy) of abnormalities (dis) of shape, form, or structure (morpho); in human beings most disorders of morphogenesis (the development of form and structure) are congenital—either genetic or the result of other prenatal influences.
		Abnormal labor; usually refers to maternal dystocia or structural abnormalities of the uterus giving rise to premature or prolonged labor.
	www.childrenwithchallenges.net /definitions/D.html (9376 words)

	Etiologies and Causes of Deafness (Site not responding. Last check: 2007-10-24)
		Ocular changes, including severe myopia, cataracts and retinitus pigmentosa, nerve deafness, cutaneous atrophy, joint stiffness, muscle wasting and neurological changes including peripheral neuropathology, ataxia, epilepsy and dementia.
		A developmental abnormality of the fifth cranial nerve, which divides into three branches, responsible for supplying sensation from the face, scalp, nose, teeth, mouth lining, upper eyelid, sinuses, and the front part of the tongue.
		Abnormalities of this nerve are often associated with malformation of the ear, and up to 60% of that population has a sensorineural hearing loss.
	library.gallaudet.edu /dr/faq-etiol.html (8937 words)

	Etiologies and Characteristics of Deaf-Blindness
		Abnormal coloration of the iris, drooping of the eyelid and cataracts may also be present and affect vision.
		Abnormalities which may be present include cardiac defects, (patent ductus arteriosus, ventricular septal defects), vision and hearing defects and some organ involvement.
		Additional abnormalities include: low birth weight, liver and spleen enlargement, inflammation of the brain, microcephaly, decreased platelets (thrombocytopenia), jaundice, anemia, swelling of the lymph nodes (adenopathy), abnormalities with balance (from vestibular involvement), and inflammation of the lungs (pneumonitis).
	www.dblink.org /lib/topics/etiologies.htm (16031 words)

	[No title] (Site not responding. Last check: 2007-10-24)
		This disorder is characterized by a mild mesomelic dwarfism and a bilateral malformation of the distal radius and ulna usually referred to as Madelung's deformity.
		This condition is discussed in Chapter 41 and is thought to be related to abnormally rapid ossification of the cortical portion of the metaphysis associated with abnormal calcium:phosphorus ratios in the diet.
		Short stature and stiff joints, especially in the hands, are present, as is kyphosis with a thoracolumbar gibbus.
	cal.vet.upenn.edu /saortho/chapter_57/57mast.htm (8575 words)

	eMedicine - Schwartz-Jampel Syndrome : Article by Stephen A Berman, MD, PhD
		The dysmorphic features, muscle stiffness, and muscle weakness are usually apparent to the patient's parents during the first year of life and, frequently, soon after birth.
		Other skeletal and joint deformities include short neck, pectus carinatum (convex chest, ie, chest is bowed out), kyphosis (convex angulation of spine giving a hump-back appearance), coxa valga (hip deformity involving increased neck-shaft angle of femur), and irregularity of capital femoral epiphyses.
		Bony abnormalities include joint deformities and limitations of joint motion, coxa valga, irregularity of the capital femoral epiphyses, kyphosis, short neck, and pectus carinatum.
	www.emedicine.com /neuro/topic337.htm (3803 words)

	Breed Predispostion
		Asymetric, abnormal development of vertebrae which may result in neonatal death or cord compression in older puppies.
		Most common are medial, accompanied by tibial rotation on the long axis, bending of the distal end of the femoral shaft and shallow femoral trochlea.
		Abnormal relative growth of the mandible and/or maxilla.
	www.sonic.net /~petdoc/BreedPre.htm (2422 words)

	Homo sapiens diseases - Immunity
		It is characterized by destruction of the white matter to the point of liquefaction; widespread necrosis of blood vessel walls leading to the formation of multiple small hemorrhages in the involved areas and the exudation of fibrin into the surrounding tissue; and cellular infiltration of the necrotic areas.
		Abnormalities on one or more EP modalities occur in 80 to 90% of MS patients.
		EP abnormalities are not specific to MS, although a marked delay in the latency of a specific EP component (as opposed to a reduced amplitude) is suggestive of demyelination.
	focosi.immunesig.org /pathohomotissueimmunity.html (8799 words)

	Medical Dictionary: D - WrongDiagnosis.com
		Damage to pelvic joints and ligaments, unspecified as to episode of care in pregnancy
		Dermal and ocular lesions, irregular menstrual cycles and altered immune responses
		Developmental dislocation of joint of pelvic region and thigh
	www.wrongdiagnosis.com /lists/dictd.htm (3081 words)

	FreeOrtho Paediatric orthopaedics
		Myopathies have abnormalities in the muscle; Neuropathies - muscle changes are secondary to abnormalities or disorders of the neuromuscular junction, peripheral nerve or anterior horn cell.
		During swing phase of gait cycle, concentric contraction of the proximal rectus flexes the hip joint and eccentric contraction of the distal rectus flexes the knee joint.
		Bony osteotomies in Dwyer's procedure is Calcaneal osteotomy, Dilwyn-Evan is excision of calcaneo cuboid joint, Lichtblau procedure is wedge excision of the lateral calcaneus proximsl to calcaneo-cuboid joint.
	freeortho.com /Revision/Paediatric.html (5989 words)

	eMedicine - Schwartz-Jampel Syndrome : Article Excerpt by: Stephen A Berman, MD, PhD
		The stiffness does not disappear with sleep or benzodiazepine treatment (as in stiff person syndrome), and it is not abolished reliably with curare (as in Isaacs syndrome).
		Because of the similarity to myotonic disorders, many speculate that a muscle ion-channel abnormality or a muscle enzyme defect may underlie this condition.
		Some evidence exists favoring both a chloride-channel abnormality (as in generalized myotonia and myotonia congenita) and a sodium-channel abnormality (as in paramyotonia congenita, hyperkalemic periodic paralysis, or potassium-aggravated myotonia).
	www.emedicine.com /neuro/byname/schwartz-jampel-syndrome.htm (506 words)

	Study Cards (Site not responding. Last check: 2007-10-24)
		Ankylosing Spondylitis-spine / bones often fuse; Juvenile-onset is in childhood; Osteoarthritis-degenerative joint disease, mostly in seniors; Rheumatoid-most serious disabling form, total body inflamation of moving and weight bearing joints.
		Causing abnormal muscle tone, delay in normal development and abnormal reflex activity.
		Chromosomal Abnormalities: Down's Syndrome(Trisomy 21) may often have heart problems, low tone, joint laxity and cervical subluxation.
	www.dsusa-ne.org /Coaches/Articles/57.aspx (1050 words)

	Myhre syndrome: new reports, review, and differential diagnosis -- Burglen et al. 40 (7): 546 -- Journal of Medical ...
		Abnormal onset of puberty was observed in three Myhre
		Verloes A, Delfortrie J, Lambotte C. GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome.
		Familial dwarfism and "stiff joints": report of a kindred.
	jmg.bmjjournals.com /cgi/content/full/40/7/546 (2223 words)

	The Lasker Foundation \| Former Award Winners, Special Achievement, 1997
		Penttinen, R.P., Lichtenstein, J.R., Martin, G.M. and McKusick, V.A.: Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.
		Cupo, L.N., Pyeritz, R.E., Olson, J.L., McPhee, S.J., Hutchins, G.M. and McKusick, V.A.: Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias.
		and McKusick, V.A.: Echocardiographic assessment of cardiovascular abnormalities in the Marfan syndrome.
	www.laskerfoundation.org /awards/library/1997s_pubs_vm.shtml (10311 words)

	Neuromuscular: Fiber Activity
		Stiffness develops during rest 1/2 hour after exercise; lasts for ~1 hour
		Functional effects of long repeat RNA: Abnormal splicing of muscle CLC1 (chloride) channel RNA
		Stiffness with cooling less common than in paramyotonia
	www.neuro.wustl.edu /neuromuscular/mother/activity.html (2169 words)

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