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At a glance

An Orofaciodigital Syndrome characterized by the association of metacarpal abnormalities with central polydactyly and cerebellar abnormality.

Synonyms

Oral-Facial-Digital Syndrome Type VI; Orofaciodigital Syndrome VI; Polydactyly Cleft Lip/Palate or Lingual Lump and Psychomotor Retardation; Joubert Syndrome Type VI.

Incidence

Unknown. Very rare.

Genetic inheritance

Autosomal recessive. Mostly C5orf42 gene mutations.

Pathophysiology

The cerebellar abnormalities are thought to be caused by a primary neuronal or glial cell defect.

Diagnosis

Characteristic malformations generally noted at birth but can also be detected on fetoscopy. Defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. “Molar tooth sign” characteristic for “Joubert Syndrome related disorders.” Magnetic resonance imaging demonstrates hypoplasia of the cerebellar vermis. Radiography of limb extremities shows polydactyly characterized by a Y-shaped central metacarpal.

Clinical aspects

Reduplicated big toes; hexadactyly; central hand polydactyly; cleft lip; cleft palate; multiple ear abnormalities; lingual nodule; growth retardation; absent olfactory bulbs and tracts; cerebellar signs; congenital heart defect; recurrent episodes of tachypnea and hyperpnea; cryptorchidism; and inguinal hernia are described. Death occurs in neonatal period or early childhood.

Precautions before anesthesia

Assessment of airway. Evaluate cardiac and respiratory function (clinical, chest radiographs, echocardiography, arterial blood gas analysis).

Anesthetic considerations

Possible difficulties with tracheal intubation as a result of facial abnormalities and often the presence of significant lingual nodules, especially the posterior ones. Perioperative cardiac and respiratory monitoring is recommended.

Varadi-Papp Syndrome: Lingual nodules in a newborn with Varadi-Papp Syndrome.

Pharmacological implications

Prophylactic antibiotics must be considered in cases of cardiac defect.

Other conditions to be considered

  • Oral-Facial-Digital Syndrome: At least nine types of Oral-Facial-Digital Syndrome have been identified. Symptoms common to most include episodic neuromuscular disturbances, split tongue, mandible splits, midline cleft lip, overgrowth frenulum, broad-based nose, epicanthic folds, polysyndactyly, camptodactyly, and increased number of calvarial plates.

  • Juberg-Hayward Syndrome: Characterized by cleft lip and palate malformations, microcephaly, deformities of the thumbs and toes, and short stature.

  • Acrofacial Dysostosis (Nager Type): Rare hereditary disorder presenting with cleft lip and palate, craniofacial anomalies, micrognathia, and small thumbs. Difficult tracheal intubation expected.

  • Joubert Syndrome: Very rare hereditary neurological disorder characterized by severe ataxia and coordination. The neuromuscular and eye movement disturbances are similar to those of Oral-Facial-Digital Syndrome. Other clinical features include psychomotor retardation and/or respiratory problems.

  • Pallister Hall Syndrome: Association ...

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