cleft lip/palate-ectodermal dysplasia syndrome
Findings
No curated finding names cleft lip/palate-ectodermal dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0009151), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
47 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.
- 2-4 finger cutaneous syndactylyHPOHP:0010709
- 1 of 1 reported patient
- Atopic dermatitisHPOHP:0001047
- 1 of 1 reported patient
- Cleft lipHPOHP:0410030
- 1 of 1 reported patient
- Dry hairHPOHP:0011359
- 1 of 1 reported patient
- Ectodermal dysplasiaHPOHP:0000968
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
Show the remaining 35
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- Toe syndactylyHPOHP:0001770
- Very frequent (80% to 99% of cases)
- Abnormal dental morphologyHPOHP:0006482
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
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.
- NECTIN1HGNC:9706
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · G2P · Autosomal recessive · 2010
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: cleft lip/palate-ectodermal dysplasia syndrome
- Also called
- cleft lip/palate-syndactyly-pili torti syndromesyndactyly-ectodermal dysplasia-cleft/lip palateZlotogora-Ogur syndrome