Search for a rare disease
Other search option(s)
Endocrine-cerebro-osteodysplasia syndrome
Disease definition
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
ORPHA:199332
- Synonym(s):
- ECO syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.8
- OMIM: 612651
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
To date, six cases from consanguineous parents have been described.
Clinical description
Endocrine anomalies include hypoplasia of the adrenal and pituitary glands. Skeletal anomalies include micromelia, syndactyly, brachydactyly and ulnar deviation of hands. Facial anomalies, such as midface hypoplasia, micrognathia, and a flat and wide nasal bridge, are also observed.
Etiology
The disease is caused by mutations in the ICK gene, encoding an intestinal cell kinase.
Genetic counseling
Transmission is autosomal recessive.
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.