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]

[…] 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]

Vision and hearing were grossly normal in all children in this family; nystagmus was not present in any relative. [docslide.com.br]

• 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]

• 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]

  Kanadia RN 33660780 2021 15 Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia. 61 Drake KD...Kanadia RN 32665241 2020 16 Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia [malacards.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 (see this term) and coxa vara. Transmission appears to be autosomal recessive. [retkebolesti.com]

• 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]

  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]

• 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]

  dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Intrauterine growth retardation Prenatal [rarediseases.info.nih.gov]

• Skeletal Dysplasia

  Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. [ncbi.nih.ncbi.unboundmedicine.com]

  Taybi and Linder as cephalo‐skeletal dysplasia (Haan et al., ; Meinecke & Passarge, ; Meinecke, Schaefer, & Wiedemann, ; Taybi,, ; Winter, Wigglesworth, & Harding, ) (OMIM #210710). [deepdyve.com]

  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]

  Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement. [x-mol.com]

• Lordosis

  Gait was somewhat waddling and stiff with increased lumbar lordosis; femora rotated externally. [docslide.com.br]

• Abnormal Behavior

  Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase Infantile Hypotonia with Psychomotor Retardation Infantile Multisystem Neurologic Disease with Osseous Fragility Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly [rgd.mcw.edu]

• Behavior Disorder

  The patient developed a behavioral disorder at age 15. Conventional karyotyping was normal (46,XY). Molecular karyotyping, performed through array-based competitive genomic hybridization, showed copy number variants that were probably benign. [ncbi.nlm.nih.gov]

• 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]

• Vertigo

  The most important imitators of epileptic seizures are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral ischemia, paroxysmal movement disorders, endocrine or metabolic dysfunction, delirium [books.google.de]

  […] movements * 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 [checkorphan.org]

• Rotary Nystagmus

  nystagmus, slow phase toward hypoactive side, latency, fatigability, and accompanied by vertigo, tinnitus, or deafness): Etiologies include labyrinthitis, vestibular neuronitis, Ménie\'re\'s disease, migraine, BPV –Central (asymmetric, rotary nystagmus [checkorphan.org]

  For patients with abnormal triiodothyronine (T3) levels, global developmental delay, central hypotonia, spastic paraplegia, dystonic movements, rotary nystagmus, and impaired hearing and gaze SLC16A2 should be screened. [latunisiemedicale.com]

• 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]

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]

Our board certified orthopedic surgeons and fellowship trained physitrists provide advanced orthopedic treatment and interventional physiatry care. [dd-clinic.com]

Prognosis - Lowry Wood syndrome Not supplied. [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]

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 features also overlap with Lowry Wood syndrome, another rare but well-defined skeletal dysplasia for which the genetic etiology has not been identified. Characteristic features include multiple epiphyseal dysplasia and microcephaly. [ncbi.nih.ncbi.unboundmedicine.com]

Full title Lowry-Wood syndrome Synonyms Epiphyseal dysplasia-microcephaly-nystagmus syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic [retkebolesti.com]

Synonyms Epiphyseal dysplasia-microcephaly-nystagmus syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]

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]

Pathophysiology Radiographic changes are consistent with multiple epiphyseal dysplasia (abnormal growth of the long tubular bones). The changes are mainly irregular and fragmented epiphyses in the long bones, especially the femoral heads. [accessanesthesiology.mhmedical.com]

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]

The use of preoperative sedation, when underlying medical condition does not prevent it (eg, airway problems), should be considered to facilitate induction of anesthesia. [accessanesthesiology.mhmedical.com]

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]