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GTR Home > Tests > Treacher Collins syndrome and related disorders Deletion / Duplication panel

Indication

This is a clinical test intended for Help: Mutation Confirmation, Diagnosis

Clinical summary

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A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss. [from SNOMEDCT_US]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Alopecia
  • Conductive hearing impairment
  • Micrognathia
  • Dental crowding
  • Trismus
  • Bicuspid aortic valve
  • Microtia
  • Low-set ears
  • Hypoplasia of the maxilla
  • Preauricular pit
  • Glossoptosis
  • Stenosis of the external auditory canal
  • Hydroureter
  • Facial asymmetry
  • Lower eyelid coloboma
  • Sparse eyelashes
  • Cupped ear
  • Wide nasal bridge
  • Delayed eruption of primary teeth
  • Everted lower lip vermilion
  • Protruding ear
  • Preauricular skin tag
  • Cleft palate
  • Mandibulofacial dysostosis
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Conditions tested

Target population

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Individuals whose clinical findings are consistent with the specific disorder.

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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