Presentation
The three children with unilateral anomalies were diagnosed late, presenting with bone marrow failure. All three have subsequently died following late bone marrow transplants. [read.qxmd.com]
National Suicide Prevention Lifeline Serves many people with rare and chronic diseases and understands that these diagnoses can be very isolating and present a heavy emotional (and sometimes financial) burden. [rarediseases.info.nih.gov]
A -year-old white man who presented to the emergency department with an ST segment elevation MIwas given thrombolytics discount 250mg disulfiram overnight delivery, oxygen, and aspirin. [retain24.com]
Entire Body System
- Short Stature
National Center for Advancing Translational Sciences Home Browse by Disease Milner Khallouf Gibson Syndrome Milner Khallouf Gibson Syndrome Other Names: Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm [rarediseases.info.nih.gov]
stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia TERMUI T742722 TH ORD (2010) tui T047 [bioportal.bioontology.org]
Synonyms Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia Overview No overview is available at this time. Please check back for future updates. For more information, visit GARD. [rarediseases.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia See more Don’t fight Milner Khallouf [rareguru.com]
Abstract A family in which three siblings born to related parents all manifested clinical abnormalities characteristic of Fanconi's anaemia (microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb [adc.bmj.com]
- Disability
Social Security Disability Benefits Provides information about who qualifies for Social Security disability benefits and links to more information including how to apply online. [rarediseases.info.nih.gov]
M 2/2 MICPCH - See X-linked intellectual disability, Najm type MICPCH SYNDROME - See X-linked intellectual disability, Najm type Micro syndrome Microangiopathic hemolytic anemia - See Congenital thrombotic thrombocytopenic purpura Microangiopathic hemolytic [herenciageneticayenfermedad.blogspot.com]
- Fever
[…] reinclusion - See Ankylosis of teeth Molar pregnancy - See Hydatidiform mole Mollaret meningitis Mollaret's meningitis - See Mollaret meningitis Moloney syndrome Molybdenum cofactor deficiency MOMO syndrome MONA - See Torg Winchester syndrome Monday morning fever [herenciageneticayenfermedad.blogspot.com]
Psychiatrical
- Suggestibility
Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]
Face, Head & Neck
- Beaked Nose
National Center for Advancing Translational Sciences Home Browse by Disease Milner Khallouf Gibson Syndrome Milner Khallouf Gibson Syndrome Other Names: Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm [rarediseases.info.nih.gov]
nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia TERMUI T742722 TH ORD (2010) tui T047 [bioportal.bioontology.org]
Synonyms Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia Overview No overview is available at this time. Please check back for future updates. For more information, visit GARD. [rarediseases.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia See more Don’t fight Milner Khallouf [rareguru.com]
Abstract A family in which three siblings born to related parents all manifested clinical abnormalities characteristic of Fanconi's anaemia (microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb [adc.bmj.com]
Neurologic
- Memory Impairment
On examina-tion, the patient was agitated; he had memory impairment, and a left homonymous defect was notedon visual-field testing. [retain24.com]
Treatment
They fly individuals to hospitals and treatment centers in 26 states within a 600 mile radius of their St. Louis, MO headquarters. [rarediseases.info.nih.gov]
The primary pathology for chorea and ballismus occurs in the basal gan-glion; therefore, many drug options similar to the treatment of dystonia areconsidered as the first line of treatment. [retain24.com]
Prevention
IMALIVE Provides help with suicide intervention, prevention, awareness, and education and hope through online crisis chat, educational on-campus and virtual college events, and awareness campaigns. [rarediseases.info.nih.gov]