Congenital acrofacial dysostosis obvious at birth.
Characterized by an absent or incompletely developed tongue (hypoglossia),
absent or partially missing fingers and/or toes (ectrodactylia),
micrognathia, and malformation of arms and/or legs (peromelia).
Marked mandibular hypoplasia in a 14-year-old boy with
Aglossia-Adactyly Syndrome; Akroteriasis Congenita;
Hanhart Syndrome; Mandibular Dysostosis and Peromelia Syndrome;
Oromandibular Limb Hypoplasia Syndrome; Peromelia with Micrognathism.
Rare (“natural” incidence: 1:175,000 live births).
Most cases are sporadic, but autosomal
dominant inheritance has been reported.
Not known. Vascular disruptions at approximately
the fourth embryonic week, with possible drug influence, have been
hypothesized. In vivo and pathologic studies and animal models support this
theory. Whether a preceding blastogenetic alteration or a disorganization
mutation is an influencing factor remains unclear.
Diagnosis is based only on clinical findings.
The syndrome is characterized by a small
mandible, hypoglossia or aglossia, and hypodactylia. Mental retardation is
reported in 10 to 15% of patients.
An anesthesiology consultation
is highly recommended before elective surgery. Tube feeding may be necessary in the
neonatal period. Management of the airway may be difficult because of the
anatomical particularities; evaluate for potential difficult tracheal
intubation. Physical examination directed primarily toward the central
nervous system, cardiovascular system (cor pulmonale), lungs, and upper
airway (tracheomalacia). Standard preoperative laboratory examinations are
appropriate in most patients (blood chemistries, blood group, hemoglobin,
Anesthetic management depends on the
severity of the malformations and, thus, on the surgical procedure.
Special attention must be given to the airway management. All proper
equipment to assist with difficult direct laryngoscopy must be available.
Maintain spontaneous ventilation until the trachea is secured and lung ventilation
No known implications with this
Johnson Hall Krous Syndrome (Glossopalatine Ankylosis Cataracts
Digital Syndrome): Similar condition presenting with digital anomalies and cataracts.
Goldenhar Syndrome: Common birth defect of vascular origin
involving first and second branchial arch derivatives resulting mainly with
hemifacial microsomia with absent ear and eye and vertebral anomalies.
Usually associated with cardiovascular anomalies, including ventriculoseptal
defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot,
and coarctation of the aorta. Arnold-Chiari syndrome and hydrocephalus are
reported. Severe-to-major anesthetic implications, especially the airway
(unilateral hypoplasia of the facial bones and muscles). Epibulbar dermoids.
Limited mouth opening, micrognathia, cleft palate.
Moebius Syndrome: Congenital facial diplegia as a result of
underdevelopment of the sixth and seventh cranial nerves. Impaired ability
to suck in the infancy period often leads to the diagnosis. Excessive
drooling and crossed eyes may be present.
De Smet L, Schollen W: Hypoglossia-hypodactyly syndrome: Report of 2
patients. Genet Couns 12:347, 2001.
Mishima K, Sugahara T, Mori Y, et al: Case report: Hypoglossia-hypodactylia ...