thoracic malformation
MONDO:0015929Mondo
Findings
No curated finding names thoracic malformation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FGF4HGNC:3682
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (15)
- Acropectorovertebral dysplasia
- congenitally short costocoracoid ligament
- fetal akinesia deformation sequence
- lethal congenital contracture syndrome 1
- microphthalmia, syndromic 9
- NEK9-related lethal skeletal dysplasia
- orofaciodigital syndrome IV
- ossification anomalies-psychomotor developmental delay syndrome
- short rib-polydactyly syndrome
- shoulder and thorax deformity-congenital heart disease syndrome
- Sprengel deformity
- sternal cleft
- thoracic dysplasia-hydrocephalus syndrome
- thoracolaryngopelvic dysplasia
- thoracomelic dysplasia