endocrine-cerebro-osteodysplasia syndrome
Findings
No curated finding names endocrine-cerebro-osteodysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
Definition from the Mondo Disease Ontology (MONDO:0012980), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
45 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.
- AnkyloblepharonHPOHP:0009755
- 4 of 4 reported patients
- Bowed forearm bonesHPOHP:0003956
- 6 of 6 reported patients
- BrachydactylyHPOHP:0001156
- 6 of 6 reported patients
- Deeply set eyeHPOHP:0000490
- 5 of 5 reported patients
- HypotelorismHPOHP:0000601
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 6 of 6 reported patients
- MicromeliaHPOHP:0002983
Show the remaining 33
- Ulnar deviation of the handHPOHP:0009487
- 6 of 6 reported patients
- Median cleft palateHPOHP:0009099
- 5 of 6 reported patients
- MicrophallusHPOHP:0030260
- 3 of 4 reported patients
- Hypoplasia of the epiglottisHPOHP:0005349
- 2 of 3 reported patients
- Laryngeal hypoplasiaHPOHP:0008749
- 2 of 3 reported patients
- Low-set earsHPOHP:0000369
- 4 of 6 reported patients
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.
- CILK1HGNC:21219
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: endocrine-cerebro-osteodysplasia syndrome
- Also called
- ECO syndrome