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Apert syndrome

MIM.101200 10q26

Friday 3 February 2006

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

- tumors

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