Conditions / Syndrome
endocrine-cerebro-osteodysplasia syndrome
info · Syndrome · ICD-10: Q87.8
A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
Signs and symptoms
- Micromelia
- Single transverse palmar crease
- Deeply set eye
- Midface retrusion
- Postaxial polydactyly
- Hypotelorism
- Bowed forearm bones
- Sandal gap
- Brachydactyly
- Ulnar deviation of the hand
Also known as: ECO syndrome