Symptoma

Lowry-Wood Syndrome

Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome

A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. [ncbi.nlm.nih.gov]

[…] cases: Epiphyseal dysplasia Irregular epiphyses Microcephaly Frequently present symptoms in 30-79% of the cases: Abnormality of retinal pigmentation Arthralgia Coxa vara Intellectual disability Nystagmus Occasionally present symptoms in 5-29% of the cases [dovemed.com]

[…] in primary gaze; drug effect if only present in upgaze) * Drug-induced (e.g., anticonvulsants, sedatives, alcohol ) * Monocular visual loss (ipsilateral slow vertical oscillation) * Head nodding, head turn (due to motor or sensory deficits) Prevention [checkorphan.org]

Epiphyseal dysplasia-microcephaly-nystagmus syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q87.5 OMIM: 226960 UMLS: C0796021 MeSH: C537038 GARD: 264 MedDRA: 10062600 The documents contained in this web site are presented [orpha.net]

  • Disproportionate Short Stature

    The sibs described in this report are similar in several respects to the children in the 2 previously reported families with Lowry-Wood syndrome, including epiphy- seal dysplasia, disproportionate short stature, and micro- cephaly. [docslide.com.br]

  • Retinal Pigmentation

    pigmentation Arthralgia Coxa vara Intellectual disability Nystagmus Occasionally present symptoms in 5-29% of the cases: Abnormality of nail color Aplasia/hypoplasia of the corpus callosum Astigmatism Brachydactyly Delayed skeletal maturation Dislocated [dovemed.com]

    pigmentation 0007703 Arthralgia Joint pain 0002829 Coxa vara 0002812 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Nystagmus Involuntary, rapid, rhythmic eye movements [rarediseases.info.nih.gov]

    Pigment Abnormalities RAHMAN SYNDROME Raine Syndrome Rajab Syndrome Rambaud Galian Syndrome Ramon Syndrome Ramos Arroyo Clark Syndrome Rapp-Hodgkin syndrome Rasmussen Johnsen Thomsen Syndrome Ray Peterson Scott Syndrome Reardon Hall Slaney syndrome Reardon [rgd.mcw.edu]

    […] lower lip 12/15 - Speech abnormalities 15/15 ** ** Diminished body bulk 15/15 Kyphoscoliosis 13/15 Osteoporosis 11/11 Long finger/toes 12/15 *** # Unsteady gait 10/15 **** **** Renal abnormalities 3/13 Nephrocalcinosis a 0/13 Frequent infections 0/13 Retinal [ojrd.biomedcentral.com]

  • Leukonychia

    He also had hypoplasia of the corpus callosum and leukonychia totalis, which were not described in the previous cases. [ncbi.nlm.nih.gov]

    Hereditary leukonychia manifests at birth or early infancy, whereas the acquired type appears in childhood. Leukonychia can be a true leukonychia involving the nail plate. [e-ijd.org]

  • Tinnitus

    * Short stature * Mental retardation * Square iliac bones * Flattened acetabula Causes - Lowry Wood syndrome * Vestibular –Peripheral (horizontal rotary nystagmus, slow phase toward hypoactive side, latency, fatigability, and accompanied by vertigo, tinnitus [checkorphan.org]

  • Coxa Vara

    We report on a brother and sister with epiphyseal dysplasia and coxa vara, microcephaly, and short stature. [ncbi.nlm.nih.gov]

    Coxa vara is rarely described in association with isolated epiphyseal dysplasia. We have seen 4 sibs, including a brother and sister who have epiphyseal dysplasia with coxa vara, microce- phaly, and short stature. [docslide.com.br]

    Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. [orpha.net]

    Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Last updated: 9/1/2008 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

  • Small Head

    We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. [ncbi.nlm.nih.gov]

    Overview A rare syndrome characterized by a small head, rapid involuntary eye movements (nystagmus) and abnormal development of the ends of long bones where growth occurs. [checkorphan.org]

    head circumference [ more ] 0000252 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of retinal pigmentation 0007703 Arthralgia Joint pain 0002829 Coxa vara 0002812 Intellectual disability [rarediseases.info.nih.gov]

    Additional features of this condition include short stature, an unusually small head ( microcephaly ), progressive abnormal curvature of the spine ( kyphoscoliosis ), and other skeletal abnormalities. [ghr.nlm.nih.gov]

    Some symptoms of Lowry-Wood are developmental disabilities, microcephaly (a small head), joint problems, trouble with balance, brain cysts and retinitis pigmentosa, an eye condition that causes tunnel vision and night blindness. [readingeagle.com]

  • Skeletal Dysplasia

    DISCUSSION A boy and a girl in the family reported here have an hereditary skeletal dysplasia consisting of femoral epi- physeal dysplasia with bilateral developmental coxa vara, microcephaly (OFC 1.2). [docslide.com.br]

    Dysplasia, and Abducens Palsy Mental Retardation, X-Linked Merlob Grunebaum Reisner Syndrome MERRF Syndrome MERRF/MELAS Overlap Syndrome Mesomelia-Synostoses Syndrome Metabolic Syndrome Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness [rgd.mcw.edu]

    dysplasia. 7, 13 These values must be interpreted in the context of the patient's longitudinal growth, as well as the family background. [aafp.org]

  • Hip Dislocation

    Bilateral restricted elbow extension, knock knees and hip dislocation were also present. [ncbi.nlm.nih.gov]

    Acetabular dysplasia is an uncommon, but not unknown, finding in multiple epiphyseal dysplasia, although in this case it is a solitary finding and is likely to be a consequence of congenital hip dislocation. [docslide.com.br]

    He also had congenital bilateral hip dislocation and, by 4 years of age scoliosis. [ojrd.biomedcentral.com]

  • Platyspondyly

    […] disability Nystagmus Occasionally present symptoms in 5-29% of the cases: Abnormality of nail color Aplasia/hypoplasia of the corpus callosum Astigmatism Brachydactyly Delayed skeletal maturation Dislocated radial head Joint stiffness Patellar dislocation Platyspondyly [dovemed.com]

    […] or toes 0001156 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Dislocated radial head 0003083 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Patellar dislocation Dislocated kneecap 0002999 Platyspondyly [rarediseases.info.nih.gov]

  • Panic Attacks

    Clearly under-recognized are hyperventilation episodes, panic attacks, and other psychogenic and psychiatric paroxysmal disorders that may simulate epileptic seizures. [books.google.de]

  • Nystagmus

    And Nystagmus English OMIM 226960 L6473496 no S7501130 Y EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS French MedDRA French 10062600 L5026970 preferred S5714475 N Syndrome de Lowry-Wood French MedDRA French 10062600 L5026970 preferred S5714475 Y [doctor.am]

    […] surgery * Vestibular: Vestibular suppressant (meclizine, diazepam), vestibular adaptation exercises * Baclofen may be useful in periodic alternating nystagmus and some congenital nystagmus * Clonazepam for downbeat nystagmus Resources - Lowry Wood syndrome [checkorphan.org]

    We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. [ncbi.nlm.nih.gov]

  • Amnesia

    […] are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral ischemia, paroxysmal movement disorders, endocrine or metabolic dysfunction, delirium, psychiatric conditions or transient global amnesia [books.google.de]

    Tn Syndrome Tollner Horst Manzke Syndrome Tolosa-Hunt syndrome Tonoki Syndrome tooth and nail syndrome Townes-Brocks syndrome Townes-Brocks-Branchiootorenal-Like Syndrome toxic encephalopathy trachoma Tranebjaerg Svejgaard syndrome transient global amnesia [rgd.mcw.edu]

  • Downbeat Nystagmus

    nystagmus Resources - Lowry Wood syndrome Not supplied. [checkorphan.org]

Diagnosis - Lowry Wood syndrome The basic diagnostic workup includes visual acuity, visual fields, audiogram, caloric testing, and x-rays of the skull, mastoids, and petrous bones. [checkorphan.org]

Applications/comments Biochemical assays Many types available, depending on the condition Some can be performed only on certain tissue types, and only by certain specialized laboratories Because the selection of the type of assay is critical, a biochemical workup [aafp.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Based on their extensive clinical experience, the authors provide a personal perspective on diagnosis and treatment. [books.google.de]

Treatment - Lowry Wood syndrome * Treat the underlying etiology if possible * Remove offending medications/toxins if possible * Medications to treat the nystagmus (e.g., meclizine for BPV) have varying success * BPV: Otolith repositioning maneuvers (Epley [checkorphan.org]

(Outcomes/Resolutions) The prognosis of Lowry-Wood Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]

Prognosis - Lowry Wood syndrome Not supplied. [checkorphan.org]

The natural history of LWS is poorly understood and long term prognosis difficult to predict. Orthopedic complications such as joint dislocations, early arthritis and limited joint mobility are likely to occur at a young age. [ashg.org]

Often fatal – if not fatal, prognosis may be similar to that of severe TBI. – Other sxs: dilated pupils, LOC, loss of eye mvmt, respiratory failure. [slideplayer.com]

You can help by adding to it. ( December 2016 ) Prognosis [ edit ] There is no cure and no standard course of treatment for Coffin–Lowry syndrome. [en.wikipedia.org]

[…] eyes): Etiologies include internuclear ophthalmoplegia of multiple sclerosis or cerebral disease * Periodic alternating nystagmus (cervicomedullary junction) * Downbeat (cervicomedullary junction, characteristic of syringobulbia) * Upbeat (brainstem [checkorphan.org]

The Smith-Lemli-Opitz syndrome: a detailed pathological study as a clue to an etiological heterogeneity. Virchows Arch A 1984; 404 :413–25. 37 Donnai D, Young ID, Owen WG, Clark SA, Miller PF, Knox WF. [nature.com]

While aspirin may be involved in the etiology of Reyes syndrome, at least one other factor, a viral infection, has been established as a contributing cause. [docslide.com.br]

Epidemiology and etiology of Parkinson's disease: a review of the evidence. Eur J Epidemiol. 2011;26(suppl 1):S1–S58. 25. Blennow K, de Leon MJ, Zetterberg H. Alzheimer's disease. Lancet. 2006;368(9533):387–403. 26. Wattendorf DJ, Hadley DW. [aafp.org]

All studies were reported to be case series or epidemiological studies of 1 to 34 year duration. The diagnostic methods employed by the different reports were not described in detail. [ojrd.biomedcentral.com]

The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978; 44 :227–75. 82 Kitsiou Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS. Unusual ocular findings in an infant with cri-du-chat syndrome. [nature.com]

The causal relation between salicylate and Reyes syndrome suggested by epidemiological studies is supported by pathological findings in children with salicylate-induced death. [docslide.com.br]

A cohort stud of epidemiological associations and outcomes of pregnancies with hypertensive disorders. Hipertens Pregnancy 1998;17:31-41. [ Links ] 33. Modema MAB. Hipertensão arterial na gravidez: aspectos perinatais [MSc dissertation]. [scielo.br]

In view of the enormous world population (10%) that uses betel quid ( 2, 8 ) and the effect of the metabolic syndrome on global health ( 4 ), our finding has important epidemiologic implications. [ajcn.nutrition.org]

McCullough PA: Cardiorenal syndromes: pathophysiology to prevention. Int J Nephrol 2011;2011:762590. [karger.com]

The pathophysiological processes of MR in the human brain are very complex and, have most probably started already in early pregnancy. [latunisiemedicale.com]

This uncertainty exists partly because its pathophysiological mechanism remains obscure and partly because of disagreement about the criteria used to define this syndrome. [scielo.br]

anticonvulsants, sedatives, alcohol ) * Monocular visual loss (ipsilateral slow vertical oscillation) * Head nodding, head turn (due to motor or sensory deficits) Prevention - Lowry Wood syndrome Not supplied. [checkorphan.org]

Our orthopedic surgeons and PM&R physicians will discuss the causes, symptoms, diagnosis, treatment, and prevention of your musculoskeletal pain – foot and ankle pain, hand and wrist pain, sore back, back pain, spinal issues, lumbar conditions, hip pain [dd-clinic.com]

[…] injury Consider impact of injury on various levels: – Somatic, emotional/behavior, & cognitive – Subjective & objective Tracking/reassessing sxs over time important Education important – Sxs of concussion – Recovery/return to sport after concussion – Prevention [slideplayer.com]

Savi, P. (2005) Clopidogrel for the secondary prevention of stroke. [scindeks.ceon.rs]