Osteogenesis Imperfecta

Osteogenesis Imperfecta also known as "brittle bone disease" is a genetic disorder due to defective synthesis of type I collagen with generalized involvement of the bones, teeth, ligaments, sclerae and skin. Clinical features include propensity to fracture, generally after minor trauma, the skin is thin and somewhat loose and the joints are hypermobile. These patients can also present grey or blue sclera and crumbling teeth (dentinogenesis imperfecta). Here we have a sample of the blue sclera in this patient.

 

Triple repeat diseases

What are the triple repeat diseases?

 

¡Huntington’s → (CAG)

¡Fragile X →(CGG)

¡Myotonic Dystrophy → (CTG)

¡Prader Willi

¡Spinal/bulbar muscular atrophy (Friedreich’s ataxia) → (GAA)

Commonly associated with ANTICIPATION

ELISA (Direct & Indirect)

Immunodeficiencies

Lysosomal storage diseases

Marfan's Syndrome

AUTOSOMAL DOMINANT DISEASES

Disease Adult polycystic kidney disease Familial Hipercolesterolemia Familial Adenomatous Polyposis Marphan Syndrome Neurofibromatosis type I Neurofibromatosis type I Von Hipplel-Lindau disease Hunginton's Disease Hereditary Spherocytosis Tuberous Sclerosis Acondroplasia

Remarks Mutation APKD1 (chr 16) Hyperlipidemia type IIA FAP Ch 5 AD Positive Colon Ca Fibrillin gene mutation Von Recklinghausen's disease q17 Bilateral Acustic Neuroma Deletion of VHL gene chr 3p chr 4 triplet repeat disorder Increased MCHC Tuberous Sclerosis Acondroplasia

AUTOSOMAL RECESSIVE DISEASE Cystic fibrosis Albinism α1-antitrypsin deficiency Phenylketonuria Thalassemias Sickle cell anemias Glycogen storage diseases Mucopolysaccharidoses (except Hunter’s) Sphingolipidoses (except Fabry’s) Infant polycystic kidney disease Hemochromatosis.

X-LINKED RECESSIVE DISEASE Fragile X Duchenne’s muscular dystrophy Hemophilia A and B Fabry’s G6PD deficiency Hunter’s syndrome Ocular albinism Lesch–Nyhan syndrome Bruton’s agammaglobulinemia Wiskott–Aldrich syndrome

Source: FA

CATCH 22 Deletion 22q11 syndrome

DiGeorge Sd

Cleft Palate

Abnormal facies

Thymic Aplasia

Cardiac Defect

Hipocalcemia (Parathyroid Aplasia sec)

22 (Microdeletion at 22q11)

DiGeorge Sd

Deletion 22q11 syndrome: Encyclopedia of Genetic Disorders

Deletion 22q11 syndrome: Encyclopedia of Genetic Disorders
DiGeorge Sd