LD24.C
category
Bent bone dysplasias
Definition
Any syndromes are characterised by poor mineralization of the skull, craniosynostosis, hypoplastic pubis and clavicles, osteopenia, bent long bones, low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. These syndromes may be associated with mutation of the FGFR2 gene.
Also indexed as
Bent bone dysplasiasCampomelia, Cumming typeKyphomelic dysplasiaStüve-Wiedemann syndromeWeismann-Netter syndrome
Nearby in Syndromes with skeletal anomalies as a major feature
LD24.0Syndromes with micromeliaLD24.1Bone diseases with increased bone densityLD24.2Bone diseases with disorganised development of skeletal componentsLD24.3Spondyloepiphyseal or spondyloepimetaphyseal dysplasiasLD24.4Spondylometaphyseal dysplasiasLD24.5Spondylodysplastic dysplasiasLD24.6Multiple epiphyseal dysplasia or pseudoachondroplasiaLD24.7Multiple metaphyseal dysplasias