Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000522551.16
Last updated: 2023-06-19
Test version history
- 522551.16, last updated: 2023-06-19
- 522551.15, last updated: 2020-09-09
- 522551.14, last updated: 2019-10-09
- 522551.13, last updated: 2018-07-03
- 522551.12, last updated: 2018-05-25
- 522551.11, last updated: 2018-02-23
- 522551.10, last updated: 2017-12-04
- 522551.9, last updated: 2017-02-07
- 522551.8, last updated: 2017-01-11
- 522551.7, last updated: 2017-01-03
- 522551.6, last updated: 2016-07-08
- 522551.5, last updated: 2016-03-30
- 522551.4, last updated: 2016-03-08
- 522551.3, last updated: 2016-01-28
- 522551.2, last updated: 2015-08-14
- 522551.1, last updated: 2015-05-15

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Miller syndrome
Offered by PreventionGenetics

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Mutation Confirmation, Screening, Diagnosis, Pre-symptomatic, Risk Assessment

Imported from OMIM

Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010).

Imported from Human Phenotype Ontology (HPO)

Choanal atresia
Cleft upper lip
Cryptorchidism
Ectropion
Conductive hearing impairment
Congenital hip dislocation
Micrognathia
Syndactyly
Radioulnar synostosis
Low-set ears
Supernumerary vertebrae
Supernumerary nipple
Conical tooth
Abnormality of the kidney
Downslanted palpebral fissures
Short thumb
Growth delay
Eyelid coloboma
Hypoplasia of the radius
Congenital hypertrophic pyloric stenosis
Cupped ear
Midgut malrotation
Malar flattening
Postnatal growth retardation
Hypoplasia of the ulna
Pectus excavatum
Cleft palate
Micropenis
Abnormal foot morphology

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Conditions tested

Candidates for this test are patients with clinical features suggestive of Treacher Collins syndrome/ Mandibulofacial Dysostosis/ Miller syndrome and Acrofacial dysostosis, Nager type.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel

Indication

Clinical summary

Imported from OMIM

Clinical features