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;
Origin ID : 301950;
UMLS CUI : C1844918;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
