Login to search by marker and hierarchy!
-
Robinow syndrome
Relevant markers:
Broad nasal bridgeFixed extended kneeFixed flexion of hip/sHypertelorismLow set ear/sMicrognathia/retrognathiaNarrow thoraxOther syndactyly of toesShort upper limbsRhizomelia/short femurRhizomelia/short humerusMesomelia of forearmsThoracic hemivertebraParents markers:Ambiguous genitaliaCleft palateFace
Incidence: 1/1 — 500000/1000000 Involved genes:
(gene — definition — chromosome)ROR2 — RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2 — 9q22.31 , WNT5A — WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A — 3p14.3 Inheritance mode: AD, AR Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database Links: www.ncbi.nlm.nih.gov, www.orpha.net References: 2006 Fetal Diagn Ther Case report Read on PubMed 2014 J Clin Ultrasound Case report Read on PubMed Login for more details.