Presentation
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]
These conditions present the next challenge for disease-gene identification of Mendelian disorders. [karger.com]
Entire Body System
- Developmental Delay
Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. [accesspediatrics.mhmedical.com]
delay syndrome Congenital Upper Extremity Deformities + Craniomicromelic Syndrome Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull Distal Transverse Limb Defects with Mental Retardation and Spasticity Ectrodactyly-Polydactyly [rgd.mcw.edu]
- Developmental Disorder
Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies Kaplan Plauchu Fitch Syndrome Kaufman oculocerebrofacial syndrome Kuster Syndrome Laryngeal Atresia, Encephalocele, and Limb Deformities Le Marec Bracq Picaud Syndrome Lethal Faciocardiomelic [rgd.mcw.edu]
The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: microphthalmia [karger.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]
Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC: X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. [karger.com]
- Multiple Congenital Anomalies
Further evidence for autosomal recessive inheritance. 57 61 Meinecke P...Fryns JP 4075561 1985 38 Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. 61 57 Lubinsky M...Rapoport JM 6859098 1983 39 Recessive loss of function PIGN [malacards.org]
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]
Obtain a history of seizures, review the treatment and its efficiency and optimize it if necessary. [accesspediatrics.mhmedical.com]
Prognosis
Menezes AV, Lewis TL, Buncic JR: Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome. Br J Ophthalmol 80:805–811 (1996). [karger.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]
Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA: Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia [karger.com]