Branchial arch syndrome, X-linked

Preferred Label : Branchial arch syndrome, X-linked;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mandibulofacial dysostosis, toriello type;

Description : Toriello et al. (1985) reported 2 brothers and their male maternal first cousin with branchial arch defects and other anomalies. All 3 showed microcephaly, downslanting palpebral fissures, highly arched palate, apparently low-set, protruding ears, bilateral hearing loss, slightly webbed neck, somewhat short stature, and learning disability. Cryptorchidism was present in 2 and subvalvular pulmonic stenosis and body asymmetry in 1. Zelante et al. (1993) reported another patient with this syndrome. Puri and Phadke (2002) reported a boy with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion, and bilateral cryptorchidism. The authors considered the patient to have the Toriello type of mandibulofacial dysostosis with some additional features, including pectus excavatum. They suggested that the 2 sibs reported by Delb et al. (2001) also had the Toriello type of MFD. *FIELD* RF 1. Delb, W.; Lipfert, S.; Henn, W.: Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? Clin. Dysmorph. 10: 105-109, 2001. 2. Puri, R. D.; Phadke, S. R.: Further delineation of mandibulofacial dysostosis: Toriello type. Clin. Dysmorph. 11: 91-93, 2002. 3. Toriello, H. V.; Higgins, J. V.; Abrahamson, J.; Waterman, D. F.; Moore, W. D.: X-linked syndrome of branchial arch and other defects. Am. J. Med. Genet. 21: 137-142, 1985. 4. Zelante, L.; Vigliaroli, L.; Mingarelli, R.; Dallapiccola, B.: Confirmation of the mandibulofacial dysostosis, Toriello type. (Letter) Am. J. Med. Genet. 45: 534-535, 1993. *FIELD* CS;

Inheritance : X-linked;

Prefixed ID : 301950;

Details

Origin ID

301950;

UMLS CUI

C1844918;

Currated CISMeF NLP mapping
- Branchial arch syndrome X-linked [MeSH concept]
- X-linked mandibulofacial dysostosis [ORDO Disease]
- X-linked mandibulofacial dysostosis (disorder) [SNOMED CT concept]
- branchial arch syndrome X-linked [MeSH Supplementary Concept]
HPO term(s)
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Protruding ear [HPO term]
- Pulmonic stenosis [HPO term]
- Short stature [HPO term]
- Specific learning disability [HPO term]
- Webbed neck [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked mandibulofacial dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchial arch syndrome X-linked [MeSH concept]
- X-linked mandibulofacial dysostosis [ORDO Disease]
- X-linked mandibulofacial dysostosis (disorder) [SNOMED CT concept]
- branchial arch syndrome X-linked [MeSH Supplementary Concept]

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