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Maxillonasal dysplasia

Orpha number ORPHA1248
Synonym(s) Binder syndrome
Maxillonasal dysostosis
Prevalence Unknown
Inheritance
  • Autosomal dominant
  • Autosomal recessive
  • Multigenic/multifactorial
Age of onset Neonatal/infancy
ICD-10
  • Q75.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The etiology and pathogenesis of Binder syndrome remains uncertain. Binder syndrome occurs in less than one birth in 10,000 but is probably underdiagnosed. Most reported cases were sporadic. A few cases of recurrence in pedigrees could be explained by either autosomal recessive or dominant inheritance with reduced penetrance or by multifactorial etiology. Phenocopies of Binder syndrome have been described in children exposed in utero to phenytoin or to vitamin K deficiency, being induced either by drug (anticoagulants) or by biliary lithiasis. Some authors consider Binder syndrome as an allelic form of chondrodysplasia punctata. Others suggest that Binder type maxillonasal dysplasia does not represent a distinct disease entity or syndrome, but rather is a nonspecific abnormality of the nasomaxillary regions. Prenatal diagnosis by two and three-dimensional ultrasound is possible (visualization of flat profile; bone hypoplasia) from 20-22 weeks of gestation. Since the degree of malformation in Binder syndrome varies significantly, surgical correction (orthodontic, plastic surgery) needs to be tailored individually.

Expert reviewer(s)

  • Pr Marie-Paule VAZQUEZ

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