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Golden Har |
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Synonyms |
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Oculo-auriculo-vertebral dysplasia
Goldenhar syndrome
Hemifacial microsomia
Axial mesodermal dysplasia spectrum |
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Clinical |
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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 |
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Differential diagnosis |
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Distinguish from VATER (3425) and Brancho-oto-renal syndrome (3133).
Compare with Frontnasal dysplasia (3288). |
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Genetics |
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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. |
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Traits |
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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 |
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