Nager acrofacial dysostosis
Findings
No curated finding names Nager acrofacial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Definition from the Mondo Disease Ontology (MONDO:0007943), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
65 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.
- 4-5 toe syndactylyHPOHP:0004692
- 1 of 1 reported patient
- Abnormal pinna morphologyHPOHP:0000377
- 15 of 15 reported patients
- Abnormal thumb morphologyHPOHP:0001172
- 10 of 10 reported patients
- Bilateral radial aplasiaHPOHP:0004977
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Cervical ribsHPOHP:0000891
- 1 of 1 reported patient
- Facial asymmetryHPOHP:0000324
Show the remaining 53
- Preauricular hair displacementHPOHP:0009554
- 1 of 1 reported patient
- Short 1st metacarpalHPOHP:0010034
- 2 of 2 reported patients
- Short 5th fingerHPOHP:0009237
- 1 of 1 reported patient
- Short halluxHPOHP:0010109
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
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.
- SF3B4HGNC:10771
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Nager acrofacial dysostosis
- Also called
- acrofacial dysostosis 1, Nager typemandibulofacial dysostosis with preaxial limb anomaliesNAFDNager acrofacial dysostosis syndromeNager Syndromepreaxial acrodysostosis