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.