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Genetic Counseling
Introduction
 
Archives
Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Achondrogenesis
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
   
     
  Golden Har  
     
 
  
 
     
  Synonyms  
  Oculo-auriculo-vertebral dysplasia
Goldenhar syndrome
Hemifacial microsomia
Axial mesodermal dysplasia spectrum
 
     
  Clinical  
  Associaltion of facial symmetry , hypoplastic ears, vertebral and rib defects, CNS and other defects. Part of mesodermal malformation spectrum. Includes the Goldenhar syndrome (with epibulbar dermoid) and Hemifacial microsomia  
     
  Differential diagnosis  
  Distinguish from VATER (3425) and Brancho-oto-renal syndrome (3133).
Compare with Frontnasal dysplasia (3288).
 
     
  Genetics  
  Autosomal dominant.
Reported with partial dup 22q (4697) (Hathout).
Warnings: We have found the traits listed below useful for matching this diagnosis. The traits arenot intended to define this syndrome.
 
     
  Traits  
 
Autosomal dominant / recessive
Hydromnios / polyhydromnios
Small for gestational age (IUGR)
Lipoma
Microcephaly
Facies significantly abnormal
Expressionless / hypotonic / myopathic face
Triangular face
Structural asymmetry of face
Facial palsy
Down-slanting palperbal fissures
Shunt VSD / ASD / PDA
Cyanotic / complex heart disease
Coarction of the aorta
Pulmonic artesia / stenosis / hypoplastic right heart
Abnormal oesophagus / tracheo-oesophageal fistula
Dysphagia / feeding difficulty
Imperforate anus / anal stenosis
Dysplastic / cystic-dysplastic kidneys
Uretric abnormalities (reflux / hydronephrosis)
Horse shoe / fused / ectopic kidneys
Uterine / vaginal abnormality
Asplenia / hyposplenia
Other skull abnormality
Supernumerary ribs
Abnormal rib structure including fusion
Vertebral malsegmentation / fusion / hemivertebrae
Other spinal / vertebral abnormality
Absent / hypoplastic radius