SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/720501007
http://purl.bioontology.org/ontology/SNOMEDCT/720501007
Preferred Name

Arachnodactyly with abnormal ossification and intellectual disability syndrome

Definitions
A multiple congenital developmental anomalies syndrome with characteristics of arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
Synonyms
Kosztolanyi syndrome
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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