TREACHER COLLINS SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE
TCS3
Number of Symptoms 10
OrphanetNr:
OMIM Id: 248390
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000272) Malar flattening 277 / 7739
2
(HPO:0005321) Mandibulofacial dysostosis 7 / 7739
3
(HPO:0000347) Micrognathia 426 / 7739
4
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0000652) Lower eyelid coloboma 9 / 7739
7
(HPO:0000356) Abnormality of the outer ear 85 / 7739
8
(OMIM) Zygomatic complex hypoplasia 2 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Microtia Hearing loss, conductive 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the ...
Clinical Description OMIM In 2 sisters in an inbred Hutterite kindred, Lowry et al. (1985) described mandibulofacial dysostosis and raised the question of an autosomal recessive form of Treacher Collins syndrome. The palpebral fissures were downward slanting, the outer third of ...
Molecular genetics OMIM Dauwerse et al. (2011) analyzed the POLR1C gene in 252 individuals with Treacher Collins syndrome and identified 3 patients, including 1 from a family previously studied by Splendore et al. (2000), with compound heterozygous mutations (610060.0001-610060.0005, respectively).