nasopalpebral lipoma-coloboma syndrome
Findings
No curated finding names nasopalpebral lipoma-coloboma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
Definition from the Mondo Disease Ontology (MONDO:0008182), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
36 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
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- ColobomaHPOHP:0000589
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Cupped earHPOHP:0000378
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
Show the remaining 24
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Lower eyelid colobomaHPOHP:0000652
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Sparse eyebrowHPOHP:0045075
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Upper eyelid colobomaHPOHP:0000636
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.
- ZDBF2HGNC:29313
- Limited · Ambry Genetics · Autosomal dominant · 2018