Talk:2011 Lab 1 - Online Assessment

From Embryology

AIHW National Perinatal Epidemiology and Statistics Unit

NPESU Publications

International Clearinghouse for Birth Defects Surveillance and Research

OMIM

Anomalies

  • Anencephaly
  • Spina bifida
  • Encephalocele
  • Neural tube defects
  • Microcephaly - Microcephaly can be present at birth or it may develop in the first few years of life. Babies born with microcephaly have a smaller than normal head that may fail to grow as they progress through infancy.
  • Arhinencephaly/ Holoprosencephaly - A congenital anomaly of the brain, characterised by various degrees of incomplete lobation of the brain hemispheres. The olfactory nerve tract may be absent. Holoprosencephaly includes cyclopia, ethmocephaly, cebocephaly and premaxillary agenesis.
  • Hydrocephaly - A congenital anomaly characterised by dilatation of the cerebral ventricles, not associated with primary brain atrophy, with or without enlargement of the head, and diagnosed at birth. The anomaly is not counted when present with encephalocele or spina bifida.
  • Anophthalmos/ Microphthalmos - Apparently absent or small eyes. Some normal adnexal elements and eyelids are usually present. In microphthalmos, the corneal diameter is usually less than 10 mm and the antero-posterior diameter of the globe is less than 20 mm.
  • Microtia - A congenital anomaly characterised by absent parts of the pinna (with or without atresia of the ear canal) commonly expressed in grades (I–IV) of which the extreme form (grade IV) is anotia, absence of pinna. This anomaly excludes small, normally shaped ears, imperforate auditory meatus with a normal pinna, dysplastic and low set ears.
  • Transposition of great vessels
  • Tetralogy of Fallot
  • Hypoplastic left heart syndrome
  • Coarctation of the aorta
  • Choanal atresia
  • Cleft palate without cleft lip
  • Cleft lip with or without cleft palate
  • Oesophageal atresia/stenosis
  • Small intestinal atresia/stenosis
  • Anorectal atresia/stenosis
  • Hirschsprung’s disease
  • Hypospadias
  • Epispadias
  • Renal agenesis/dysgenesis
  • Cystic kidney
  • Bladder exstrophy
  • Polydactyly
  • Limb reduction defects
  • Diaphragmatic hernia
  • Exomphalos
  • Gastroschisis
  • Trisomy 13
  • Trisomy 18
  • Trisomy 21

Genetic Disorders

  • Angelman Syndrome
  • Turner's Syndrome
  • Williams Syndrome
  • Cystic Fibrosis
  • Fragile X Syndrome
  • Klinefelter Syndrome
  • Triple X Syndrome
  • Thalassemia
  • Duchenne Muscular Dystrophy
  • Osteogenesis Imperfecta
  • Congenital Adrenal Hyperplasia
  • DiGeorge syndrome
  • Friedreich ataxia
  • Lesch-Nyhan Syndrome
  • Farber's Disease
  • Mucopolysaccharidoses