LADD syndrome
Findings
No curated finding names LADD syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
Definition from the Mondo Disease Ontology (MONDO:0007872), read 2026-09-29. CC BY 4.0.
Features
63 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.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
- Abnormal digit morphologyHPOHP:0011297
- Frequent (30% to 79% of cases)
- Abnormal lacrimal duct morphologyHPOHP:0011481
- Frequent (30% to 79% of cases)
- Abnormal lacrimal gland morphologyHPOHP:0011482
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Abnormal salivary gland morphologyHPOHP:0010286
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- EpiphoraHPOHP:0009926
- Frequent (30% to 79% of cases)
- Keratoconjunctivitis siccaHPOHP:0001097
- Frequent (30% to 79% of cases)
- XerostomiaHPOHP:0000217
- Frequent (30% to 79% of cases)
Show the remaining 51
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Abnormal thumb morphologyHPOHP:0001172
- Occasional (5% to 29% of cases)
- Absent lacrimal punctumHPOHP:0001092
- Occasional (5% to 29% of cases)
- Absent thumbHPOHP:0009777
- Occasional (5% to 29% of cases)
- ClinodactylyHPOHP:0030084
- Occasional (5% to 29% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Occasional (5% to 29% of cases)
Genes
3 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
Other names
7 names
Resolves to: LADD syndrome
- Also called
- Lacrimo-auriculo-dento-digital syndromeLacrimoauriculodento-digital syndromeLACRIMOAURICULODENTODIGITAL syndromeLacrimoauriculoradiodental syndromelard syndromeLevy Hollister syndromeLevy-Hollister syndrome