Skip to Main Content

At a glance

An exceptionally rare syndrome involving head and limbs.

Syonyms

Oromandibular Limb Hypogenesis Syndrome Chicarilli Type IV; Oromandibular Limb Hypogenesis Syndrome Hall Type V.

Incidence

Less than 5 cases have been described.

Genetic inheritance

Has not been determined, yet.

Diagnosis

Based on the clinical features.

Clinical aspects

A bipolar disease involving the head and neck and the limbs. Craniofacial dysmorphism may consist of microcephaly, long, large ears, broad nose, hypertelorism, short philtrum, micro- and retrognathia, cleft lip, fusion of the lower lip and tongue to the hard palate (glossopalatine ankylosis), hypo- and ankyloglossia, oligodontia, microstomia, and thin lips. Chronic otitis media and conductive hearing loss may result from the facial anomalies. Limb anomalies may include bilateral aplasia of the upper extremity distal to the elbow (ectromelia) or if not aplastic, metacarpal abnormalities, triphalangeal thumbs, and syn-, brachy- and oligodactyly of the fingers. Lower leg anomalies may consist of hemimelia distal to the calcaneus, or bifid great toes, syndactyly of the toes, and dysplastic toenails.

Precautions before anesthesia

Assess for difficult airway management. Otherwise, routine preoperative assessment is considered adequate.

Anesthetic considerations

Anesthesia in this condition has not been described. However, the features of the disease suggest that airway management will most likely be very difficult, thus maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device [not an option in glossopalatine ankylosis], fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. Peripheral vascular access could be challenging given the limb anomalies and ultrasound guidance will most likely be helpful.

Pharmacological implications

None specific to this disorder.

Other conditions to be considered

  • Hypoglossia-Hypodactylia Syndrome (Aglossia-Adactyly Syndrome; Akroteriasis Congenita; Hanhart Syndrome; Mandibular Dysostosis and Peromelia Syndrome; Peromelia with Micrognathism; Oroacral Syndrome; Oromandibular Limb Hypoplasia Syndrome): Congenital acrofacial dysostosis already obvious at birth. It is characterized by absent or incompletely developed tongue (hypoglossia) and micrognathia, and malformation of arms and/or legs (peromelia) with absent or partially missing fingers and/or toes (ectrodactylia).

  • Moebius Syndrome (Congenital Oculofacial Paralysis; Congenital Facial Diplegia, Moebius Sequence): Rare developmental disorder characterized by facial paralysis (mask-like face) already present at birth. Facial nerve development is absent, and the sixth (abducens) and seventh (facial) cranial nerves are most often affected. Other features include numerous anomalies of the orofacial region and malformations of the limbs. Mental retardation occurs in approximately 10% of cases.

  • ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.