Preferred Label : Craniomicromelic syndrome;
ICD-11 definition : Craniomicromelic syndrome is a very rareskeletal disorder characterized by intrauterine
growth retardation, underossification of the skull with large fontanels, short limbs
with absent phalanges and finger and toe syndactyly. Dysmorphic features include narrow
face with small palpebral fissures, small pointed nose, microstomia, micrognathia
and low-set and posteriorly rotated ears.;
Origin ID : 1734157428;
Currated CISMeF NLP mapping
Craniomicromelic syndrome is a very rareskeletal disorder characterized by intrauterine
growth retardation, underossification of the skull with large fontanels, short limbs
with absent phalanges and finger and toe syndactyly. Dysmorphic features include narrow
face with small palpebral fissures, small pointed nose, microstomia, micrognathia
and low-set and posteriorly rotated ears.
