Pfeiffer syndrome

Pfeiffer syndrome Relevant markers:

Adducted thumbAnal atresiaArnold-Chiari malformationBrachycephalyBroad big toeBroad thumbCervical kyphoscoliosisCervical kyphosisCervical scoliosisCloverleaf shapeCraniosynostosis of coronal sutureFrontal bossingHypertelorismHypoplastic noseLow nasal bridgeMacroglossiaMidface/maxillary hypoplasiaProminent foreheadProptosis/prominent eyesRenal cyst/sSacral appendageStrawberry signTurricephaly1st degree AV-blockCerebellar hypoplasiaDepressed nasal bridgeExophthalmia

Parents markers:

CraniosynostosisFused vertebraSyndactyly of fingersThumb ToesVentriculomegalyVertebral bodySyndactyly of toes

Incidence:

1/100000 — -

Involved genes:
(gene — definition — chromosome)

FGFR1 — FIBROBLAST GROWTH FACTOR RECEPTOR 1 — 8p11.23-p11.22 , FGFR2 — FIBROBLAST GROWTH FACTOR RECEPTOR 2 — 10q26.13

Inheritance mode:

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2013	J Obstet Gynaecol	Case report	Read on PubMed
2016	J Matern Fetal Neonatal Med	Literature review	Read on PubMed
2018	Prenat Diagn	Case series (4 cases)	Read on PubMed