TCS4
MCID: TRC126
MIFTS: 20
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Treacher Collins Syndrome 4 (TCS4)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Treacher Collins Syndrome 4:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
clinical variability intubation or tracheostoma in neonatal period nasogastric or gastrostomy tube feedings in neonatal period HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Ear diseases Bone diseases |
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) |
Diseases in the Treacher Collins Syndrome 1 family:
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Human phenotypes related to Treacher Collins Syndrome 4:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618939 (Updated 05-Mar-2021) |
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Articles related to Treacher Collins Syndrome 4:
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ClinVar genetic disease variations for Treacher Collins Syndrome 4:6
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Search
GEO
for disease gene expression data for Treacher Collins Syndrome 4.
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