Apert syndrome - Phenotip

Apert syndrome Relevant markers:

Beaked noseBrachycephalyBrachydactyly of fingersBrachydactyly of toesBroad big toeBroad thumbCloverleaf shapeCoarctation of aortaColpocephalyCongenital diaphragmatic hernia (CDH)Corpus callosum dysgenesisCraniosynostosis of coronal sutureDepressed nasal bridgeDolichocephalyFlat faceFlat nasal bridgeFlat occiputFrontal bossingFused cervical vertebraHeterotopiaHypertelorismHypomineralizationHypoplastic noseHypoplastic thoracic cageMacroglossiaMandibular prognathismMegalencephalyMicrognathia/retrognathiaMidface/maxillary hypoplasiaMild ventriculomegaly (12-15 mm)Mitten deformityMulticystic dysplastic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOverriding aortaPartial agenesis of corpus callosumPolyhydramniosProminent foreheadProptosis/prominent eyesPulmonary valve stenosisSevere micromeliaShort neckTemporal lobe overexpansion and oversulcationTetralogy of Fallot (TOF)TurricephalyLow set ear/sNephromegalyBroad nasal bridgeLow nasal bridge

Parents markers:

Abnormal head shapeAgenesis of corpus callosum (ACC)Arachnoid cystCleft palateCraniosynostosisEndocardial fibroelastosisHeartHypomineralization of vertebral bodyKidneysPyelectasis/hydronephrosisSyndactyly of fingersSyndactyly of toesVentricular septal defect (VSD)Ventriculomegaly

Incidence:

- — 1/10000

Male — Female Ratio:

1 — 1

Involved genes:
(gene — definition — chromosome)

FGFR2 — FIBROBLAST GROWTH FACTOR RECEPTOR 2 — 10q26.13

Inheritance mode:

AD, Sporadic (new mutation)

Other online databases:

OMIM

Links:

emedicine.medscape.com, www.ncbi.nlm.nih.gov

References:

2000	Prenat Diagn	Case report	Read on PubMed
2010	Fetal Diagn Ther	Case report	Read on PubMed
2010	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2011	Prenat Diagn	Case report	Read on PubMed
2014	Childs Nerv Syst	Case report	Read on PubMed
2014	Prenat Diagn	Case series	Read on PubMed
2015	Prenat Diagn	Case series (6 cases)	Read on PubMed
2018	Childs Nerv Syst	Case series (3 cases)	Read on PubMed