lacrimoauriculodentodigital syndrome 3
MONDO:0859578Mondo
Findings
No curated finding names lacrimoauriculodentodigital syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 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.
- Absent lacrimal punctumHPOHP:0001092
- 7 of 7 reported patients
- AlacrimaHPOHP:0000522
- 4 of 4 reported patients
- Carious teethHPOHP:0000670
- 4 of 4 reported patients
- Partial duplication of thumb phalanxHPOHP:0009944
- 4 of 4 reported patients
- Lacrimal duct aplasiaHPOHP:0007925
- 8 of 9 reported patients
- Cupped earHPOHP:0000378
- 4 of 7 reported patients
- Absent eyelashesHPOHP:0000561
- 1 of 2 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 1 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 2 reported patients
- EsotropiaHPOHP:0000565
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- MicrotiaHPOHP:0008551
- 1 of 2 reported patients
Show the remaining 4
- Short thumbHPOHP:0009778
- 1 of 2 reported patients
- Widely spaced teethHPOHP:0000687
- 1 of 2 reported patients
- XerostomiaHPOHP:0000217
- 1 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 0 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.
- FGF10HGNC:3666
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of