Nager-de Reynier syndrome

A rare syndrome combining the features of mandibulofacial dysostosis with limb abnormalities and other defects. The facial characteristics include downward slanting palpebral fissures, blepharoptosis, coloboma of the lower eyelids, absence of lower eyelashes, micrognathia or absence of lower jaw, external ear defect, clefting of hard or soft palates, and scalp hair extending on to cheek. Upper limb defects include underdeveloped or missing thumbs with occasional duplication or triphalangy, missing index finger, and syndactyly. Other limb anomalies may include hypoplasia or aplasia of the radius, radioulnar synostosis, hip dislocation, and limitations of elbow extension. Legs and toes may also be affected. Some internal anomalies exist including stomach or kidney reflux. Other features include tetralogy of Fallot, and CNS malformations, velopharyngeal insufficiency and laryngeal and hypoglossal hypoplasia, Kidney agenesis or malposition, speech and hearing disorder, Some patients exhibit mental retardation. Most cares are sporadic.

The term Nager-de Reynier has been used as a synonym for Weyers' syndrome II, or acrofacial dysostosis. This is a separate entity entered under Helmut Weyers, German paediatrician and paedontologist, 1920-1986.

• B. Slingenberg:
  Missbildungen von Extremitäten.
  Virchows Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, 1908, 193: 1-91.
• F. R. Nager, J. P. de Reynier:
  Das Gehörorgan bei den angeborenen Kopfmissbildungen.
  Practica oto-rhino-laryngologica, Basel, 1948, 2(Suppl 2): 1-128.
• A. Franceschetti, D Klein:
  The mandibulo-facial dysostosis: A new hereditary syndrome.
  Acta ophthalmologica, Copenhagen, 1949, 27: 143-224
• D. Klein et al:
  Sur une forme extensive de dysostose mandibulofaciale (Franceschetti) accompagnée de malformations des extremities.
  Rev Otoneuroopht, Paris, 1970, 42:432-40
• P. Bowen, F. Harley:
  Mandibulofacial dysostosis with limb malformations (Nager's acrofacial dysostosis).
  Birth Defects, 1974, 10(5): 109-115
• A. S. Aylsworth et al:
  New observations with genetic implications in two syndromes: (1) Father to son transmission of Nager acrofacial dysostosis syndrome; and (2) Parental consanguinity in the Proteus syndrome. (Abstract).
  American Journal of Human Genetics, Chicago, 1987, 41: A43.
• Bryan D. Hall:
  Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.
  American Journal of Medical Genetics, New York, 1989, 33: 394-397.