NEK9-related lethal skeletal dysplasia
Findings
No curated finding names NEK9-related lethal skeletal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
Definition from the Mondo Disease Ontology (MONDO:0014870), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Pulmonary hypoplasiaHPOHP:0002089
- 3 of 3 reported patients
- Short long boneHPOHP:0003026
- 4 of 4 reported patients
- Short neckHPOHP:0000470
- 3 of 3 reported patients
- Talipes equinovarusHPOHP:0001762
- 4 of 4 reported patients
- Long philtrumHPOHP:0000343
- 3 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 4 reported patients
- Adducted thumbHPOHP:0001181
Show the remaining 18
- Ventricular septal defectHPOHP:0001629
- 2 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 5 reported patients
- CardiomegalyHPOHP:0001640
- 1 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 3 reported patients
- Stiff neckHPOHP:0025258
- 1 of 3 reported patients
- TorticollisHPOHP:0000473
- 1 of 3 reported patients
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.
- NEK9HGNC:18591
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: NEK9-related lethal skeletal dysplasia
- Also called
- LCCS10lethal congenital contracture syndrome 10lethal congenital contracture syndrome type 10lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome