cranioectodermal dysplasia 6
MONDO:0979883Mondo
Findings
No curated finding names cranioectodermal dysplasia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
94 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.
- Bilateral postaxial polydactylyHPOHP:0006136
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 5 of 5 reported patients
- Cavum septum pellucidumHPOHP:0002389
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Delayed eruption of teethHPOHP:0000684
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
- 3 of 3 reported patients
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Ectodermal dysplasiaHPOHP:0000968
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 5 of 5 reported patients
- Fine hairHPOHP:0002213
- 1 of 1 reported patient
Show the remaining 82
- Frontal bossingHPOHP:0002007
- 3 of 3 reported patients
- Full cheeksHPOHP:0000293
- 5 of 5 reported patients
- HemangiomaHPOHP:0001028
- 2 of 2 reported patients
- Hepatic cystsHPOHP:0001407
- 1 of 1 reported patient
- HepatitisHPOHP:0012115
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
Where it sits
- A kind of