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Kondoh Syndrome

Mental Retardation Microcephaly Growth Retardation Joint Contractures and Facial Dysmorphism


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Prior to presentation, she was on conservative treatment prescribed by her family physician for diarrhea and low grade fever.[signavitae.com]
  • The factor analysis of teachers' professional burnout and stressor classification of professional character are presented.[sciepub.com]
  • Poikiloderma a varied presentation - Huriez syndrome. Indian Dermatol Online J 2015;6:27-30 How to cite this URL: Kharge P, Fernendes C, Jairath V, Mohan M, Chandra S. Poikiloderma a varied presentation - Huriez syndrome.[idoj.in]
  • A unique presentation of abnormal body posture seen in approximately 5-10% of post-stroke patients [1], [2].[physio-pedia.com]
Short Stature
  • stature Skin Nails Hair Hair: sparse hair widow's peak thick eyebrows Head And Neck Mouth: thin upper lip Skeletal Limbs: knee contracture Skeletal Hands: polydactyly, preaxial interphalangeal joint contractures Head And Neck Head: microcephaly Head[malacards.org]
  • Both brothers shared short stature, microcephaly, andmild tomoderate mental retardation, all of which are themainfeatures of Dubowitz sydnrome, and are not uncommon inKlippel-Feil anomaly.[dokumen.tips]
  • stature SOURCES: MONDO GARD ORPHANET OMIM UMLS More info about IMMUNODEFICIENCY 23; IMD23 Low match EVEN-PLUS SYNDROME; EVPLS EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia[mendelian.co]
  • Infants born with Jarcho-Levin syndrome have short necks, limited neck movement, a short stature and difficulty breathing, due to small, malformed chests that have a distinctive crab-like appearance.[verywell.com]
Hunting
  • They go out for collective hunts eating the fruits and roots they collect. They usually cook food with oil extracted from sal and mahua seeds. They also use medicinal plants.[en.wikipedia.org]
Dysmorphic Face
  • On physical examination, the child has dysmorphic face ( Figure 1 ) with eversion of the lower eyelid, long palpebral fissures, arches eyebrows, long eyelashes, flattened tip of the nose, prominent ears, and abnormal dentition.[omicsonline.org]
Respiratory Distress
  • This issue of Clinics in Chest Medicine focuses on Acute Respiratory Distress Syndrome and covers topics such as: Epidemiology and Definitions of ARDS and Early Acute Lung Injury, Environmental Risk Factors for ARDS, Clinical and Biological Heterogeneity[books.google.com]
  • The boy developedneonatal respiratory distress, was found to have tracheoste-nosis, and at the age of 1 month, underwent tracheotomy,followed by repeated baloon dilatation of the stenosis.[dokumen.tips]
  • Pneumonia , aspiration pneumonia, congenital heart defects, and respiratory distress syndrome are the most common causes of death.[emedicine.medscape.com]
  • distress (31% of cases) Increased or labile blood pressure Hypoxemia (low pulse oximeter reading) See Presentation for more detail.[emedicine.medscape.com]
Yawning
  • Hough In Jeans Related searches Kondoh Kondoh Industries Kondo House Kondo Horyuji Kondoh Industries Ltd Kondo Hall Kondoh Usa Kondoh Syndrome Linked queries down downs opera girl spontaneous baby child downsyndrome family cute love portrait brother yawn[pisanieprac.info]
Ptosis
  • Related phenotypes are ptosis and intellectual disability Description from OMIM: 606242 Human phenotypes related to Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism: 33 (show all 16) # Description HPO Frequency[malacards.org]
  • […] supraorbital ridges Generalized hyperpigmentation Long palpebral fissure Absent eyebrow Biparietal narrowing Open bite Relative macrocephaly Failure to thrive in infancy Aplasia/Hypoplasia of the eyebrow Dermal atrophy Rheumatoid arthritis Bilateral ptosis[mendelian.co]
  • These include a high forehead that narrows at the temples, a short nose, widely spaced eyes ( ocular hypertelorism ), outside corners of the eyes that point downward ( down-slanting palpebral fissures ), droopy eyelids ( ptosis ), a small chin, and low-set[ghr.nlm.nih.gov]
  • . – Myhre syndrome: caused by mutation in SMAD4 – Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): caused by FOXL2 mutations – Neu-Laxova syndrome 1: PHGDH mutation – Pallister-Hall syndrome: GLI3 mutation – Galloway-Mowat syndrome: WDR73[bredagenetics.com]
Blepharoptosis
  • Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. J Hum Genet 53(1): 34-41, 2008.[www-sdc.med.nagasaki-u.ac.jp]
  • He hadsparse hair, high and sloping forehead, hypertelorism, ble-pharophymosis, blepharoptosis, depressed nasal bridge, andmicrognathia (Fig. 2A). His voice feature could not be con-firmed because of his tracheotomy.[dokumen.tips]
Flexion Contracture
  • contracture 33 HP:0006380 13 atopic dermatitis 33 HP:0001047 14 widow's peak 33 HP:0000349 15 pear-shaped nose 33 HP:0000447 16 interphalangeal joint contracture of finger 33 HP:0001220 Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes:[malacards.org]
  • Muscular hypotonia of the trunk Irregular hyperpigmentation Calcification of the aorta Autoimmunity Hepatosplenomegaly Hypothyroidism Diabetes mellitus Pneumonia Pain Pulmonary edema Leukemia Aortic valve stenosis Mitral regurgitation Glaucoma Coma Flexion[mendelian.co]
  • In addition, she had hearing loss and mild flexion contracture of the right elbow. On radiologic examination, the maxillary sinuses were absent, and the bone density of the skull bones and long bones was increased.[genome.jp]
Hand Deformity
  • Upton’s practice is one of the world’s largest specializing in congenital hand deformities, vascular anomalies, and pediatric and adult microsurgery.[books.google.com]
  • Besides microphthalmia/anophthalmia, there can be syndactyly, oligo or polydactyly synostosis/absence of the metatarsals, fused toes, split hand, lobster-claw hand deformity, hypoplasia of the fibula with short femur or tibia, In addition, internal organs[bredagenetics.com]
Osteoporosis
  • PubMed Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and v... Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.[ncbi.nlm.nih.gov]
  • Osteoporosis Down syndrome appears to be a specific vulnerability factor for the development of osteoporosis, and both general and compression fractures of the spine occur frequently ( 4 ).[tidsskriftet.no]
Torticollis
  • […] with symptoms including hypothyroidism , heart defects , facial dysmorphism , cryptorchidism in males, hypotonia , mental retardation and postnatal growth retardation . [1] [2] Other symptoms include transient hypothyroidism, macular degeneration and torticollis[en.wikipedia.org]
Sparse Hair
  • […] from OMIM: 58 Head And Neck Eyes: ptosis Growth Height: short stature Skin Nails Hair Hair: sparse hair widow's peak thick eyebrows Head And Neck Mouth: thin upper lip Skeletal Limbs: knee contracture Skeletal Hands: polydactyly, preaxial interphalangeal[malacards.org]
  • Intrauterinegrowth retardation, short stature, microcephaly, delayeddevelopment, eczema, sparse hair, and characteristic facies,all supported the diagnosis of Dubowitz syndrome.G-banded chromosomes were 46,XY in both brothers.Microarray-based comparative[dokumen.tips]
  • hair Fine hair Ectropion Nephrotic syndrome Abnormality of the skeletal system High forehead Gastroesophageal reflux Hydronephrosis Delayed skeletal maturation Pica Short nose Atrial septal defect Anteverted nares Short neck Vasculitis Depressed nasal[mendelian.co]
  • Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature. In most cases intelligence is normal, but some may show mental retardation.[bredagenetics.com]
Sparse Hair
  • […] from OMIM: 58 Head And Neck Eyes: ptosis Growth Height: short stature Skin Nails Hair Hair: sparse hair widow's peak thick eyebrows Head And Neck Mouth: thin upper lip Skeletal Limbs: knee contracture Skeletal Hands: polydactyly, preaxial interphalangeal[malacards.org]
  • Intrauterinegrowth retardation, short stature, microcephaly, delayeddevelopment, eczema, sparse hair, and characteristic facies,all supported the diagnosis of Dubowitz syndrome.G-banded chromosomes were 46,XY in both brothers.Microarray-based comparative[dokumen.tips]
  • hair Fine hair Ectropion Nephrotic syndrome Abnormality of the skeletal system High forehead Gastroesophageal reflux Hydronephrosis Delayed skeletal maturation Pica Short nose Atrial septal defect Anteverted nares Short neck Vasculitis Depressed nasal[mendelian.co]
  • Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature. In most cases intelligence is normal, but some may show mental retardation.[bredagenetics.com]
Alopecia
  • Clear Turn Off Turn On KONDS [Homo sapiens] KONDS [Homo sapiens] Gene ID:100653373 Gene Topical minoxidil solution (1% and 5%) in the treatment of alopecia areata. Topical minoxidil solution (1% and 5%) in the treatment of alopecia areata.[ncbi.nlm.nih.gov]
  • CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as cie; erythrodermic ichthyosis; non-bullous congenital ichthyosiform erythroderma Related symptoms: Short stature Hearing impairment Failure to thrive Alopecia Pruritus SOURCES: UMLS ORPHANET[mendelian.co]
  • Dermatological diseases Atopic dermatitis, vitiligo, alopecia areata, fungal infections of the skin and nails, seborrhoeic eczema and dry skin are more prevalent in persons with Down syndrome than in the general population ( 15, 21 ).[tidsskriftet.no]
  • Skin and appendages involvement Cutaneous findings usually develop during the chronic or convalescent stage of the disease and include vitiligo, alopecia and poliosis of the lashes, eyebrows and scalp hair (Fig. 5 ).[ojrd.biomedcentral.com]
Behavior Problem
  • Colin Hemmings, Nick Bouras Cambridge University Press, ٠٣‏/٠٣‏/٢٠١٦ - 310 من الصفحات Fully revised, this new edition reviews the most up-to-date and clinically relevant information on the mental health and behavioral problems of people with intellectual[books.google.com]
  • People with Sotos syndrome often have intellectual impairment, [2] and most also have behavioral problems.[ipfs.io]
  • As mentioned previously, some Sotos patients develop behavior problems during the school age years.[ojrd.biomedcentral.com]
Apraxia
  • […] fasciculation Functional abnormality of the gastrointestinal tract Tongue thrusting Anterior creases of earlobe Hypoplasia of the frontal lobes Generalized ichthyosis Absent eyelashes Abnormal heart valve morphology Premature birth Hypotrichosis Oculomotor apraxia[mendelian.co]
Amnesia
  • "Persistent amnesia as a sequel of olanzapine-induced neuroleptic malignant syndrome". The Journal of Neuropsychiatry and Clinical Neurosciences. 18 (4): 552–3. doi : 10.1176/jnp.2006.18.4.552.[en.wikipedia.org]

Workup

  • (See Workup.) The eponym West syndrome was created in the early 1960s by Drs. Gastaut, Poirier, and Pampiglione.[emedicine.medscape.com]
  • ALT Increased alkaline phosphatase Hyperuricemia Hyperphosphatemia Hyperkalemia Myoglobinemia Leukocytosis (70-98% of cases) Thrombocytosis Proteinuria Decreased serum iron [2] Increased CSF protein Hypocalcemia Myoglobinuria Metabolic acidosis See Workup[emedicine.medscape.com]

Treatment

  • Clear Turn Off Turn On KONDS [Homo sapiens] KONDS [Homo sapiens] Gene ID:100653373 Gene Topical minoxidil solution (1% and 5%) in the treatment of alopecia areata. Topical minoxidil solution (1% and 5%) in the treatment of alopecia areata.[ncbi.nlm.nih.gov]
  • , Beyond SNPs—Genetics, Genomics and Other Omic Approaches to ARDS, Clinical Approach to the Patient with ARDS, The Immunocompromised Patient with ARDS: Role of Invasive Diagnostic Strategies, Clinical Trial Design in Prevention and Treatment of ARDS,[books.google.com]
  • ., Hehlmann, R. (2005) Treatment concepts of acute promyelocytic leukemia.[scindeks.ceon.rs]
  • Adalimumab treatment for SAPHO syndrome. Acta Derm Venereol 2010; 90(3): 301–302. doi: 10.2340/00015555-0822. Kamata Y, Minota S. Successful treatment of a patient with SAPHO syndrome with certolizumab pegol.[systems.enpress-publisher.com]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Aase syndrome depends upon the severity of the syndrome.[dovemed.com]
  • (See Prognosis and Presentation.)[emedicine.medscape.com]
  • Symptoms of NMS in children are consistent with those described in adults. [27] Prognosis The prognosis in patients with neuroleptic malignant syndrome depends on how promptly treatment is instituted and on the presence of associated complications.[emedicine.medscape.com]
  • […] for rehabilitation. [9] Prognosis There are conflicting opinions in the literature with regards to the persistence of Pusher Syndrome in the longer term and its impact on functional outcome.[physio-pedia.com]
  • Our results indicate that the laterality and prognosis of PB should be considered at the time of goal setting for rehabilitation. Sources of Funding Funded, in part, by Japanese Physical Therapy Association . Disclosures None.[stroke.ahajournals.org]

Etiology

  • Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet Part C Semin Med Genet 163C:283–294. INTERNET McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore.[rarediseases.org]
  • The list of etiologies can be subdivided into prenatal disorders, perinatal disorders, and postnatal disorders.[emedicine.medscape.com]
  • The etiology of SS is unknown and it may be associated with antecedent infections, malignancies, autoimmune diseases, drugs and vaccines, upper respiratory or gastrointestinal infection, pregnancy, inflammatory bowel disease as well as chemotherapy or[ijdr.in]
  • Only the identification of the underlying cause of the disorder will enable us to apply a rational treatment but unfortunately we still do not know its etiology.[revespcardiol.org]
  • "Sympathoadrenal hyperactivity and the etiology of neuroleptic malignant syndrome". The American Journal of Psychiatry. 156 (2): 169–80. doi : 10.1176/ajp.156.2.169 (inactive 2019-05-24). PMID 9989551. Northoff G (2002).[en.wikipedia.org]

Epidemiology

  • This issue of Clinics in Chest Medicine focuses on Acute Respiratory Distress Syndrome and covers topics such as: Epidemiology and Definitions of ARDS and Early Acute Lung Injury, Environmental Risk Factors for ARDS, Clinical and Biological Heterogeneity[books.google.com]
  • However, we find it alarming that the results and interpretations on the suggested age-related metabolic differences were not properly put into epidemiological context.[pnas.org]
  • Teratomas in children: epidemiologic features. J Natl Cancer Inst 1973; 51(5):1425-1430. [8] Kilickesmez O, Gol IH, Uzun M, Oruk C.[familialcancerdatabase.nl]
  • Epidemiology Incidence is approximately 1 in 14,000 births. [2] Signs and symptoms Characterized by overgrowth and advanced bone age. Affected individuals are dysmorphic with macrodolichocephaly, downslanting palpebral fissures and a pointed chin.[ipfs.io]
  • Epidemiology [ edit ] Incidence is approximately 1 in 14,000 births. [11] See also [ edit ] Perlman syndrome Beckwith-Wiedemann syndrome References [ edit ] "7-foot-tall Broc Brown: Facts". Morning News USA. Retrieved 8 March 2017.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Various inflammatory cytokines and chemokines are thought to be associated with the pathophysiology of meconium aspiration syndrome.[pediatrics.aappublications.org]
  • Despite these associations, further clinical and experimental investigations will be needed to illuminate the in vivo pathophysiological significance of this protein.[clinsci.org]
  • Moreover, the pathophysiology of PCOS is not completely understood and its aetiology remains an enigma.[humrep.oxfordjournals.org]
  • "Catatonia and neuroleptic malignant syndrome: psychopathology and pathophysiology". Journal of Neural Transmission. 109 (12): 1453–67. CiteSeerX 10.1.1.464.9266. doi : 10.1007/s00702-002-0762-z. PMID 12486486.[en.wikipedia.org]
  • Pathophysiology of Haemostasis and Thrombosis, 33(suppl. 1): 19 [ EČ ][ GS ] Fenaux, P., Chomienne, C.H., Degos, L. (1997) Acute promyelocytic leukemia: Biology and treatment.[scindeks.ceon.rs]

Prevention

  • , Beyond SNPs—Genetics, Genomics and Other Omic Approaches to ARDS, Clinical Approach to the Patient with ARDS, The Immunocompromised Patient with ARDS: Role of Invasive Diagnostic Strategies, Clinical Trial Design in Prevention and Treatment of ARDS,[books.google.com]
  • The level of application topicality and main approaches to the prevention measures of professional burnout are considered. Individual technology of psycho-physiological prevention is described.[sciepub.com]
  • Although evaluation of adiponectin as a novel therapy will ultimately require clinical intervention studies, this mediator may represent a novel target for the prevention and treatment of visceral obesity metabolic syndrome. adiponectin adipocytokine[clinsci.org]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.de]

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