Treacher Collins Syndrome 4 (TCS4)

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Disease Ontology 12 DOID:0080792 OMIM® 57 618939 OMIM Phenotypic Series 57 PS154500

MeSH 44 D008342 MedGen 41 C5394546 CN283261 SNOMED-CT via HPO 68 15253005 246800008 263681008 271611007 306963008 32958008 44057004 63567004 87979003 more

UniProtKB/Swiss-Prot : ⁷³ Treacher Collins syndrome 4: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is 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 facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. TCS4 inheritance pattern is autosomal dominant.

MalaCards based summary : Treacher Collins Syndrome 4, is also known as treacher-collins syndrome 4. An important gene associated with Treacher Collins Syndrome 4 is POLR1B (RNA Polymerase I Subunit B). Related phenotypes are microcephaly and feeding difficulties in infancy

Disease Ontology : ¹² A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has material basis in heterozygous mutation in the POLR1B gene on chromosome 2q14.

OMIM® : ⁵⁷ Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed (Sanchez et al., 2020). (618939) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618939 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Treacher Collins Syndrome 4

Search GEO for disease gene expression data for Treacher Collins Syndrome 4.