Microphthalmia-intellectual disability syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: - UMLS: C2931500 MeSH: - GARD: 4370 MedDRA: - Summary This disease has been moved to Micro syndrome The documents contained in this web site are presented [orpha.net]

They have a core of connective tissue, foliate papillae are short vertical folds and are present on each side of the tongue. [wikivisually.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

This manuscript presents the case of an 18-month old male patient, referred to the genetics service due to several phenotypic alterations. [medigraphic.com]

• Anemia

  […] carcinoma, familial Pancreatic diseases Pancreatic islet cell neoplasm Pancreatic islet cell tumors Pancreatic lipomatosis duodenal stenosis Pancreatitis, hereditary Pancreatoblastoma PANDAS Panhypopituitarism Panic disorder Panmyelophthisis aplastic anemia [bioreference.net]

  Pancreatic carcinoma, familial Pancreatic diseases Pancreatic islet cell neoplasm Pancreatic islet cell tumors Pancreatic lipomatosis duodenal stenosis Pancreatitis, hereditary Pancreatoblastoma Panhypopituitarism Panic disorder Panmyelophthisis aplastic anemia [ipfs.io]

  Pancreatic diseases * Pancreatic islet cell neoplasm * Pancreatic islet cell tumors * Pancreatic lipomatosis duodenal stenosis * Pancreatitis, hereditary * Pancreatoblastoma * PANDAS * Panhypopituitarism * Panic disorder * Panmyelophthisis aplastic anemia [en.academic.ru]

• Developmental Disorder

  DISORDER WITH CARDIAC ARRHYTHMIA INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, [rgd.mcw.edu]

  Topics in Language Disorders, 24 (4), 249-259. Volkmar, F. R., & Cohen, D. J. (1991). Nonautistic pervasive developmental disorders. Psychiatry, 2, 1-12. Witt, J. N. (1996). [nld-bprourke.ca]

  Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities [natureasia.com]

  It metastasizes widely and there is no effective therapy. --------------------------------------------------------- HENNEKAM LYMPHANGIECTASIA -LYMPHEDEMA SYNDROME Classified as a developmental disorder of the lymphatics. [lymphedemapeople.com]

• Respiratory Distress

  Litwin SB, Rosenthal A, Fellows K (1973) Surgical management of young infants with tetralogy of Fallot, absence of the pulmonary valve and respiratory distress. J Thorac Cardiovasc Surg 65:552–558 PubMed Google Scholar 32. [doi.org]

  Acute respiratory distress syndrome after orthotopic liver transplantation. J. Crit. Care 2016, 31, 163–167. [mdpi.com]

  The boy was born at 32 weeks' gestation and presented with respiratory distress. A normal amount of scalp hair was present at birth but decreased progressively to the extent of total alopecia at age 6 months. [lymphedemapeople.com]

• Aspiration

  The primary antibody was labeled using an anti-ms IgG Alexa488 secondary, fixed and prepared for imaging by washing in PBS, aspirated and then washed, then adding a 1 ng/ml DAPI/CellMask solution. Cells were imaged in PBS. [journals.plos.org]

  Risk factors for ARDS in LT patients include massive transfusion, fluid overload, sepsis, and aspiration [41]. The incidence of ARDS after LT varies between centers. In one study, the rate of ARDS in LT patients was 4.1% (71/1726 patients) [42]. [mdpi.com]

• Retinal Pigmentation

  Retardation RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Richards-Rundle Syndrome Ritscher-Schinzel [rgd.mcw.edu]

• Cryptorchidism

  He also had bilateral cryptorchidism and micropenis, mental delay, truncal hypotonia, and increased muscle tone in both legs. [rbcc.hegelab.org]

  Cubitus valgus, pulmonary valve stenosis, and patent foramen ovale, as well as cryptorchidism, were also present. [genome.jp]

  Future investigation will continue to analyze AR malfunction in AIS and other clinical conditions, such as prostate cancer, hypospadias, cryptorchidism and sarcopenia. [journals.plos.org]

  In 1 family, 2 brothers had webbing of the neck, coarctation of the aorta, and cryptorchidism. In the second, a brother and sister were affected. [lymphedemapeople.com]

• Incontinence

  The children were late walkers and were incontinent of urine and stools. [rbcc.hegelab.org]

• Tremor

  […] hypoventilation Primary biliary cirrhosis Primary ciliary dyskinesia Primary ciliary dyskinesia, 2 Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary orthostatic tremor [mindmappedia.com]

  […] biliary cirrhosis Primary ciliary dyskinesia, 2 Primary ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperoxaluria Primary lateral sclerosis Primary malignant lymphoma Primary orthostatic tremor [bioreference.net]

  […] ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperoxaluria Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary muscular atrophy Primary orthostatic tremor [ipfs.io]

  […] ciliary dyskinesia, 2 Primary ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperoxaluria Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary orthostatic tremor [wikidoc.org]

  Primary ciliary dyskinesia * Primary craniosynostosis * Primary cutaneous amyloidosis * Primary granulocytic sarcoma * Primary hyperoxaluria * Primary hyperparathyroidism * Primary lateral sclerosis * Primary malignant lymphoma * Primary orthostatic tremor [en.academic.ru]

• Aphasia

  […] cirrhosis Primary ciliary dyskinesia Primary ciliary dyskinesia, 2 Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary orthostatic tremor Primary progressive aphasia [mindmappedia.com]

  […] ciliary dyskinesia, 2 Primary ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperoxaluria Primary lateral sclerosis Primary malignant lymphoma Primary orthostatic tremor Primary progressive aphasia [bioreference.net]

  […] craniosynostosis Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperoxaluria Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary muscular atrophy Primary orthostatic tremor Primary progressive aphasia [ipfs.io]

  […] ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperoxaluria Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary orthostatic tremor Primary progressive aphasia [wikidoc.org]

  Primary craniosynostosis * Primary cutaneous amyloidosis * Primary granulocytic sarcoma * Primary hyperoxaluria * Primary hyperparathyroidism * Primary lateral sclerosis * Primary malignant lymphoma * Primary orthostatic tremor * Primary progressive aphasia [en.academic.ru]

[…] be called Noonan syndrome, pigmented villonodular synovitis, central giant cell granuloma, or cherubism, because each of these is a specific diagnostic entity sui generis and the use of such terms results in nosologic blinders that tend to limit the workup [genome.jp]

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]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

What is the prognosis? Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. [celebritydiagnosis.com]

The process by which the Di- George syndrome diagnosis, management and prognosis was reached, as well as a brief review of the literature, are presented. REFERENCES McDonald-McGinn DM, Sullivan KE. [medigraphic.com]

Sharing information on coping, diagnosis, treatment and prognosis. Sponsored by Lymphedema People. http://health.groups.yahoo.com/group/childrenwithlymphedema/ Subscribe: childre[email protected] ...................... [lymphedemapeople.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

However, because of the wide variety of etiologies and manifestations considered under this rubric, the classification by level of NLD manifestations is rendered problematic.) [nld-bprourke.ca]

Etiologic and hereditary factors: a report of cases and review of the literature. Trans. Am. Ophthal. Soc. 55: 663-700, 1957. 9. Pico, G. : Congenital ectropion and distichiasis. [lymphedemapeople.com]

Acute respiratory distress syndrome after liver transplantation: Etiology, prevention and management. Hepatobiliary Pancreat. Dis. Int. 2002, 1, 330–334. [mdpi.com]

Epidemiological studies have demonstrated a close alliance between ED and vascular disease. After priming, the leukapheresis product is crowded via the inlet bloat into the constantly rotat- ing (2,400 rpm) elutriation compartment. [astakask.com]

Managing these patients requires an in-depth understanding of the pathophysiology of ESLD. [mdpi.com]

Views How To Eliminate, Prevent & Reverse The Way Our Body Ages & Dies Basic nutrition is often thought of in terms of Carbohydrates, Fats and Proteins. [momentumhealth.net]

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]

Concept ID: CN202981 • Disease or Syndrome Orphanet: ORPHA2895 Supplemental Content Recent activity Clear Turn Off Turn On Pinsky-Di George-Harley syndrome Pinsky-Di George-Harley syndrome MedGen Vinca Alkaloids Vinca Alkaloids International Journal of Preventive [ncbi.nlm.nih.gov]

Others perceive that they are being too easy on them, but they don't understand that these children need different treatment to prevent them from shutting down, getting upset and frustrated. [dailymail.co.uk]