Table 4.

Genes of Interest in the Differential Diagnosis of Greig Cephalopolysyndactyly Syndrome

Gene(s)DisorderMOIClinical FeaturesComment
EFNB1 Craniofrontonasal dysplasia
(OMIM 304110)		XL 1
  • In females: frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, abnormalities of the thoracic skeleton
  • In males: widely spaced eyes
Craniofrontonasal dysplasia facial features in females are similar to those of GCPS. 2
KIF7 Acrocallosal syndrome (ACLS)
(OMIM 200990)		ARPre- or postaxial polydactyly, cutaneous syndactyly, agenesis of the corpus callosum (rare in GCPS), widely spaced eyes, macrocephaly, moderate-to-severe ID, intracerebral cysts, seizures, & umbilical & inguinal herniasThe milder end of the ACLS phenotype may overlap w/the severe end of the GCPS phenotype (See Genotype-Phenotype Correlations.).
OFD1 3Oral-facial-digital syndrome 1 (OFD1)
(OMIM 311200)		XLPreaxial polydactyly, widely spaced eyes, syndactyly, agenesis of the corpus callosum (rare in GCPS), cerebellar agenesis, intracerebral cysts, cleft palate, cleft lip, oral frenula, polycystic kidney diseaseThe milder end of the OFD1 phenotype may overlap w/the GCPS phenotype (See Genotype-Phenotype Correlations.).

AD = autosomal dominant; AR = autosomal recessive; GCPS = Greig cephalopolysyndactyly syndrome; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked

1.

Inheritance of EFNB1 craniofrontonasal dysplasia is unusual for an X-linked disorder: heterozygous females are severely affected and hemizygous males are almost asymptomatic.

2.
3.

Oral-facial-digital syndrome type 1 is caused by pathogenic variants in OFD1; see Phenotypic Series: Orofaciodigital syndrome for other genes associated with this phenotype in OMIM.

From: Greig Cephalopolysyndactyly Syndrome

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