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This extremely rare disease has autosomal recessive inheritance and is characterized by short stature, malar hypoplasia, downslanting palpebral fissures, prominent and broad nasal bridge, cleft palate, severe micrognathia and microstomia, low-set auricles with microtia and stenotic or atretic ear canals, predominantly preaxial limb deficiencies with phocomelia and oligodactyly of the upper limbs, shoulder (hypoplastic scapulae) and pelvis girdle hypoplasia, absence of fibula, and oligodactyly of the feet. Other findings include arhinencephaly, congenital cardiac defects (atrial and ventricular septal defects, subvalvar pulmonary atresia), abnormal/absent lung lobulation, 11 pairs of ribs, and coronal clefts of cervical vertebrae. All three of the originally described patients died shortly after birth (two on the first day, the third on the sixth day of life) from respiratory complications secondary to severe mandibular hypoplasia. It is very unlikely that one of these patients would present for anesthesia; however, one could get involved in initial resuscitation efforts at birth requiring airway management. Difficult airway management and peripheral vascular access would be almost certain and the same anesthetic concerns and pharmacologic implications as described here for the other forms of severe acrofacial dysostosis (particularly Nager and Miller Types) would apply.


Hecht  JT: New lethal acrofacial dysostosis syndrome. (Letter) Am J Med Genet 42:400, 1992.  [PubMed: 1536191]
Petit  P, Moerman  P, Fryns  JP: Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome. Am J Med Genet 42:343, 1992.  [PubMed: 1536176]
Rodriguez  JI, Palacios  J, Urioste  M: New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet 35:484, 1990.  [PubMed: 2333875]
Rodriguez  JI, Palacios  J, Urioste  M: Response to Dr. Hecht. (Letter) Am J Med Genet 42:401, 1992.
Wessels  MW, den Hollander  NS, Cohen-Overbeek  TE,  et al: Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. Am J Med Genet 113:97, 2002.  [PubMed: 12400073]

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