Apert syndrome

AutosomalApert syndrome is an autosomal dominant disorder that results from gain-of-function mutations in the FGFR2 gene.

Synopsis

 Deceleration of linear growth during childhood
 Normal birth weight and length
 Acrobrachycephaly
 Large, late-closing fontanelle
 High, broad forehead
 Flat facies
 Mandibular prognathism
 Hearing loss
 Chronic otitis media
 Shallow orbits
 Hypertelorism
 Down-slanting palpebral fissures
 Proptosis
 Depressed nasal bridge
 Choanal stenosis or atresia
 Strabismus
 Narrow palate
 Cleft palate
 Bifid uvula
 Malocclusion
 Delayed dental eruption
 Ventricular septal defect
 Overriding aorta
 Anomalous tracheal cartilage
 Pyloric stenosis
 Esophageal atresia
 Ectopic anus
 Cryptorchidism
 Vaginal atresia
 Hydronephrosis
 Craniosynostosis (coronal)
 Cervical vertebrae fusion, usually at C5 to C6
 Synostosis of radius and humerus
 Fusion of carpal bones, especially capitate and hamate
 Symmetric osseous and/or cutaneous syndactyly of hands and feet
 Broad distal phalanx of thumb
 Broad distal hallux
 Moderate to severe acne
 Single nail digits 2 to 4
 Variable mental retardation
 Agenesis of the corpus callosum
 Ventriculomegaly
 Absent septum pellucidum
 Limbic malformations
 Paternal age effect
 premature fusion of cranial sutures
 digital anomalies

 urinary malformations

• hydronephrosis
• duplicated renal pelvis

 tumors

• ovarian dysgerminoma (17243131)

Etiology

 germline mutation of FGFR2

See also

 FGFRs

• FGFR1

See also

 Crouzon syndrome (MIM.123500)
 Pfeiffer syndrome (MIM.101600)

References

 Rouzier C, Soler C, Hofman P, Brennetot C, Bieth E, Pedeutour F. Ovarian dysgerminoma and Apert syndrome.Pediatr Blood Cancer. 2008 Mar;50(3):696-8. PMID: 17243131

 Wallis-Crespo MC, Enid GB. Acrocephalosyndactyly type I (Apert syndrome). Fetal Pediatr Pathol. 2004 Mar-Jun;23(2-3):191-7. PMID: 15768864