CONGENITAL

• CEREBELLAR SYNDROME: Congenital Cerebellar Ataxia
• CERVICAL SYNDROME: Supernumerary C7 rib------> Pressure on brachial plexus ------> pain radiating over shoulder, arm, and forearm over C7 distribution.
• DANDY-WALKER SYNDROME: Obstruction of Foramina of Magendie and Luschkain infants ------> Hydrocephalus.
• DIGEORGE SYNDROME: Congenital absence of 3^rd and 4^th Branchial Arches (Thymus and Parathyroid Glands) ------> secondary symptoms:
  • No cell-mediated immunity ------> Frequent viral and fungal infections
  • Characteristic facial deformities
• DOWN SYNDROME: Trisomy 21. Mental retardation, characteristic facial features, Simeon crease in hand.
• FANCONI'S SYNDROME Type I: Bone-marrow hypoplasia------> refractory anemia, pancytopenia.
• EHLERS-DANLOS SYNDROME:Congenital defect in collagen.
  • Hyper-elasticity and friability of the skin.
  • Hyperextensibility of the joints.
• FETAL ALCOHOL SYNDROME:Fetal malformations, growth deficiencies, craniofacial anomalies, limb defects.
• GOODPASTURE'S SYNDROME: Autoantibodies against basement membranes ------> Glomerulonephritis (kidney) and hemoptysis(lungs).
  • Often, death by renal failure
• KLINEFELTER'S SYNDROME:Trisomy XXY ------> testicular atrophy, increase in gonadotropins in urine.
• KLIPPEL-FEIL SYNDROME:
  • Cervical vertebrate fused
  • Congenital short neck, limited neck rotation
  • Abnormalities of the brainstem and cerebellum
  • Low hairline.
• LESCH-NYHAN SYNDROME: Deficiency of HGPRT (Hypoxanthine-Guanine Phospho-ribosyltransferase------>
  • Hyperuricemia, uric acid kidney stones
  • Choreoathetosis
  • Mental retardation, autism, spastic cerebral palsy
  • X-Linked recessive
• MARFAN SYNDROME:Connective Tissue disorder ------>
  • Arachnodactyly: Abnormally long digits and extremities
  • Subluxation of lens
  • Dissecting aortic aneurism
• POSTRUBELLA SYNDROME:Infantile defects resulting from maternal Rubella infection during first trimester.
  • Microphthalmos, cataracts
  • Deafness
  • Mental retardation
  • Patent ductus arteriosis, Pulmonary arterial stenosis
• PRADER-WILLI SYNDROME:Short stature, mental retardation, polyphagia with marked obesity, sexual infantilism.
• RENDU-OSLER-WEBER SYNDROME: Hereditary hemorrhagic telangiectasia.
• SUDDEN INFANT DEATH SYNDROME:Unexplained death in sleeping infants.
• TURNER'S SYNDROME:XO monosomy.
  • Dwarfism
  • Webbed neck
  • Valgus of elbow.
  • Amenorrhea
• WILSON SYNDROME: Congenital defect in Ceruloplasmin, leading to buildup of copper ------> mental retardation, cirrhosis, hepatolenticular degeneration.