Table 3.

Nonallelic Craniosynostosis Syndromes to Consider in the Differential Diagnosis of Apert Syndrome

GeneDisorderMOIFeatures of the Differential Diagnosis Disorder
In common with "classic" Apert syndromeNot seen in Apert syndrome
POR POR-related Antley-Bixler syndrome 1ARSee Table 2a.See Table 2a.
RAB23 Carpenter syndromeAD
  • Craniosynostosis (multisuture, coronal most common)
  • Brachyturricephaly
  • Maxillary hypoplasia
  • Obstructive sleep apnea
  • Hypertelorism
  • Ocular proptosis
Brachydactyly w/o syndactyly
FGFR3 Muenke syndrome AD
  • Craniosynostosis (unilateral or bilateral coronal)
  • Mild maxillary hypoplasia
  • Downslanting palpebral fissures
  • Cervical spine fusions
  • Sensorineural hearing loss
  • Brachydactyly
  • Carpal-tarsal fusion
  • Carpal bone malsegregation
  • Coned epiphyses
FGFR1 FGFR1-related Pfeiffer syndrome types 1, 2, & 3 2ADSee Table 2a.See Table 2a.
TWIST1 TWIST1-related Saethre-Chotzen syndrome 3ADSee Table 2a.See Table 2a.
1.

Antley-Bixler syndrome is caused by mutation of FGFR2 or POR.

2.

Pfeiffer syndrome is caused by mutation of FGFR1 or FGFR2. See FGFR-Related Craniosynostosis Syndromes.

3.

Saethre-Chotzen syndrome is typically caused by mutation of TWIST1, but a family with phenotypic features of Saethre-Chotzen syndrome and normal TWIST1 sequence analysis had an FGFR2 pathogenic variant [Freitas et al 2006].

From: Apert Syndrome

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