TREACHER COLLINS SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: TCS2
Number of Symptoms 11
OrphanetNr:
OMIM Id: 613717
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000347) Micrognathia 426 / 7739
2
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
(HPO:0000453) Choanal atresia 76 / 7739
4
(HPO:0000175) Cleft palate 349 / 7739
5
(HPO:0000452) Choanal stenosis 23 / 7739
6
(HPO:0000652) Lower eyelid coloboma 9 / 7739
7
(HPO:0000750) Delayed speech and language development 197 / 7739
8
(HPO:0001270) Motor delay 322 / 7739
9
(OMIM) Zygomatic complex hypoplasia 2 / 7739
10
(OMIM) Microtia Hearing loss, conductive 2 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 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 ...
Molecular genetics OMIM In a 3-year-old boy with Treacher Collins syndrome who was negative for mutation in the TCOF1 gene (606847), Dauwerse et al. (2011) performed genomewide copy number analysis and identified a 156-kb de novo deletion at chromosome 13q12.2 that ...