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At a glance

Inherited polymalformative syndrome characterized by supernumerary digits, webbing or fusion of digits, large and unusually shaped skull, frontal bossing, and hypertelorism.

Synonyms

Polysyndactyly with Peculiar Skull Shape; Polysyndactyly-Dysmorphic Craniofacies, Greig Type; Frontodigital Syndrome; Hootnik-Holmes Syndrome.

Incidence

Greig Cephalopolysyndactyly Syndrome (GCPS) affects males and females in equal numbers. There have been over 200 patients with this disorder reported in the medical literature until now. First reported in 1926.

Genetic inheritance

Autosomal dominant. There is evidence that this disorder is caused by a mutation in the zinc finger domain of the GL13 gene (gene map locus 7p13). There is phenotypic overlap with the ☞Schinzel Acrocallosal Syndrome.

Diagnosis

Based on clinical findings, family history, and genetic testing.

Clinical aspects

The range and severity of symptoms is quite variable. Macro- and scaphocephaly, a high forehead with frontal bossing and a broad nasal root with hypertelorism result in craniofacial dysmorphism, which however can be subtle in some cases. Although the gene for craniosynostosis is also located on chromosome 7, craniosynostosis is not a common feature of this disease. Intelligence is most often normal, but a few cases (<10%) have been described with agenesis of the corpus callosum, seizures, and mild mental retardation. Broad thumbs and halluces, syndactyly (mainly of the fingers 3 and 4 and the toes 1-3), postaxial polydactyly of the hands, and preaxial polydactyly of the feet are typical. Hip dislocations have been reported.

Precautions before anesthesia

Although rare, signs of craniosynostosis associated with increased intracranial pressure should be ruled out. Cooperation may be limited in patients with mental retardation and sedative and/or anxiolytic premedication as well as the presence of the primary caregiver for induction of anesthesia may be helpful.

Anesthetic considerations

Peripheral vascular access may be a bit more challenging given the anatomical features of the disease. Careful positioning is recommended to avoid dislocation of the hips. Avoid arterial hypotension, hypoxia, hypercapnia, and hyperthermia in the presence of increased intracranial pressure (ICP).

Pharmacological implications

Avoid drugs that could result in a further increase in ICP and avoid premedication in this patient group (risk of hypercapnia and arterial hypotension).

Other conditions to be considered

  • ☞Schinzel Acrocallosal Syndrome: Polymalformative syndrome characterized by polydactyly and/or syndactyly, macrocephaly, severe psychomotor and mental retardation, ocular hypertelorism, agenesis of the corpus callosum, small nose, and dysplastic ears; mostly sporadic but autosomal recessive forms have been reported.

  • Oro-Facial-Figital Syndrome: Rare genetic disorder in which many types have been identified. It is characterized with a split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue, a broad nose, ...

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