eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | treacher collins syndrome 1 |
| Comorbidity | C0025958|microcephaly |
| Sentences | 8 |
| PubMedID- 24999515 | mandibulofacial dysostosis with microcephaly (mfdm) is characterized by malar and mandibular hypoplasia; microcephaly (congenital or postnatal onset); malformations of the pinna, auditory canal, and/or middle ear (ossicles and semi-circular canals) with associated conductive hearing loss; and distinctive facial features (metopic ridge, up- or downslanting palpebral fissures, prominent glabella, broad nasal bridge, bulbous nasal tip, and everted lower lip). |
| PubMedID- 24266672 | mandibulofacial dysostosis with microcephaly (mfdm) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. |
| PubMedID- 24805776 | mandibulofacial dysostosis with microcephaly is a rare syndromic craniofacial condition caused by heterozygous loss-of-function mutations of the eftud2 gene on 17q21.31. |
| PubMedID- 22952715 | Haploinsufficiency of eftud2 causes mandibulofacial dysostosis with microcephaly, a rare syndrome characterized by mental retardation [62]. |
| PubMedID- 23695276 | Recently, the eftud2 gene was identified in patients with mandibulofacial dysostosis associated with microcephaly, intellectual disability and esophageal atresia. |
| PubMedID- 22305528 | mandibulofacial dysostosis with microcephaly (mfdm) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. |
| PubMedID- 25735261 | Novel de novo mutations in eftud2 detected by exome sequencing in mandibulofacial dysostosis with microcephaly syndrome. |
| PubMedID- 26507355 | mandibulofacial dysostosis with microcephaly (mfdm) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. |
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