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Greig cephalopolysyndactyly syndrome

ORPHA380
Synonym(s) GCPS
Prevalence 1-9 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q87.0
OMIM
UMLS
  • C0265306
MeSH
  • C537300
MedDRA
  • 10053878

Summary

Disease definition

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

Epidemiology

It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000).

Clinical description

The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial in the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment.

Etiology

GCPS is caused by loss of function mutations in the GLI3 transcription factor gene.

Diagnostic methods

Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical criteria have been delineated. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, individuals with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may also be diagnosed definitively.

Differential diagnosis

Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome (see these terms). The disorder is allelic to Pallister-Hall syndrome and one form of the acrocallosal syndrome.

Antenatal diagnosis

Antenatal molecular diagnosis is technically feasible.

Genetic counseling

GCPS is inherited in an autosomal dominant manner.

Management and treatment

Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations.

Prognosis

The prognosis for is generally excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a poorer prognosis.

Expert reviewer(s)

  • Dr Leslie BIESECKER

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Detailed information

Review article
Clinical genetics review
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