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
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