LADD syndrome 1
MONDO:0100302Mondo
Findings
No curated finding names LADD syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0100302), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Cupped earHPOHP:0000378
- 4 of 4 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 4 reported patients
- Absent lacrimal punctumHPOHP:0001092
- 3 of 4 reported patients
- AlacrimaHPOHP:0000522
- 3 of 4 reported patients
- MicrodontiaHPOHP:0000691
- 3 of 4 reported patients
- MicrotiaHPOHP:0008551
- 3 of 4 reported patients
- Short thumbHPOHP:0009778
Show the remaining 3
- High foreheadHPOHP:0000348
- 1 of 4 reported patients
- TelecanthusHPOHP:0000506
- 1 of 4 reported patients
- Triphalangeal thumbHPOHP:0001199
- 1 of 4 reported patients
Genes
2 genes
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.
Where it sits
- A kind of
Other names
2 names
Resolves to: LADD syndrome 1
- Also called
- lacrimoauriculodentodigital syndrome 1LADD1