Preferred Label : Acrocephalopolydactyly;
ICD-11 definition : Elejalde syndrome is characterized by silvery to leaden hair, bronze skin colour in
sun-exposed areas and severe neurological impairment (seizures, severe hypotonia and
intellectual deficit).;
ICD-11 synonym : Elejalde syndrome; Acrocephalopolydactylous dysplasia;
Origin ID : 1177551296;
Currated CISMeF NLP mapping
Elejalde syndrome is characterized by silvery to leaden hair, bronze skin colour in
sun-exposed areas and severe neurological impairment (seizures, severe hypotonia and
intellectual deficit).