Sunday 29 May 2011

MIDAS Syndrome

MIDAS Syndrome Facts:
  • Microphthalmia–dermal aplasia–sclerocornea syndrome.
  • Also known as Gazali-Temple syndrome.
  • Condition characterized by linear skin lesions of dermal aplasia.
  • It can be associated with the HCCS gene.
  • Inter- and intrafamilial variability is considerable.
  • Characterized by unilateral or bilateral microophthalmia &/or anophthalmia.
  • Linear skin defects, usually involving the face & neck.
  • The dermal aplasia is present at birth & heals with age, but leaves mild residual scarring.
MIDAS Syndrome Other Findings:
  • Heart defects - hypertrophic cardiomyopathy, oncocytic cardiomyopathy, & arrhythmias)
  • Central nervous system involvement - structural anomalies & infantile seizures.
  • Developmental delay
  • Short stature
  • Diaphragmatic hernia
  • Nail dystrophy
  • Preauricular pits & hearing loss
  • Genitourinary malformations
Tags: MIDAS Syndrome
Posted by Medicalchemy
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Griscelli Syndrome

Griscelli Syndrome:
  • The syndrome resembles Chediak-Higashi syndrome.
  • Usually causes death in early childhood.
  • Autosomal recessive disorder.
  • Griscelli syndrome is a disorder of melanosome transport -with 3 subtypes.
  • * Griscelli syndrome type 1 (Elejalde syndrome) - gene MYO5A
  • * Griscelli syndrome type 2 (Partial albinism with immunodeficiency) - gene RAB27A
  • * Griscelli syndrome type 3 - gene MLPH
Clinical Features:
  • Dermatology - Silver-grey hair, pale skin, focal depigmentation.
  • Gastrointestinal - Hepatosplenomegaly
  • Immunology - Multiple immunodeficiencies, pyogenic infections
  • Neurology - Demyelinating CNS disease
Tags: Depigmentation - Griscelli Syndrome - Hepatosplenomegaly - Immunodeficiency
Posted by Medicalchemy
Medicalchemy Group: History of Medicine - Images - Mnemonics - Syndromes - Acute Medicine - Anaesthesiology - Anatomy - Anthropology - Biochemistry - Cardiology - Dentistry - Dermatology - Drug ADR - Drugs - Embryology -
Emergency Medicine - Endocrinology - Epidemiology - Family Medicine - Forensic Medicine - Gastroenterology - Genes - Genetics - Geriatrics - Gynecology - Haematology - Health Informatics - Hepatology - Immunology - Infection - Intensive Care - Medical Dictionary - Medical Education - Medical Statistics - Metabolic Medicine - Microbiology - Nephrology - Neuroanatomy - Neuroscience - Nuclear Medicine - Nutrition - Obstetrics - Occupational Health - Oncology - Ophthalmology - Orthopaedics - Otolaryngology - Paediatrics - Palliative Care - Parasitology - Pathology - Pharmacology - Physiology - Proteomics - Psychiatry - Public Health - Radiology - Respiratory - Rehabilitation - Rheumatology - Sports Medicine - Surgery - Toxicology - Tropical Medicine - Urology - Vascular - Virology.

Allezandrini Syndrome

Allezandrini Syndrome General Facts:
  • Uncommon vitiligo variant.
  • Unclear aetiology.
Allezandrini Syndrome Clinical Features:
  • Retinal degeneration, unilateral
  • Facial vitiligo, ipsilateral
  • Poliosis - eyebrows, eyelashes
  • Deafness
Tags: Deafness - Poliosis - Retinal Degeneration - Vitiligo
Posted by Medicalchemy
Medicalchemy Group: History of Medicine - Images - Mnemonics - Syndromes - Acute Medicine - Anaesthesiology - Anatomy - Anthropology - Biochemistry - Cardiology - Dentistry - Dermatology - Drug ADR - Drugs - Embryology -
Emergency Medicine - Endocrinology - Epidemiology - Family Medicine - Forensic Medicine - Gastroenterology - Genes - Genetics - Geriatrics - Gynecology - Haematology - Health Informatics - Hepatology - Immunology - Infection - Intensive Care - Medical Dictionary - Medical Education - Medical Statistics - Metabolic Medicine - Microbiology - Nephrology - Neuroanatomy - Neuroscience - Nuclear Medicine - Nutrition - Obstetrics - Occupational Health - Oncology - Ophthalmology - Orthopaedics - Otolaryngology - Paediatrics - Palliative Care - Parasitology - Pathology - Pharmacology - Physiology - Proteomics - Psychiatry - Public Health - Radiology - Respiratory - Rehabilitation - Rheumatology - Sports Medicine - Surgery - Toxicology - Tropical Medicine - Urology - Vascular - Virology.