SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/763320005
http://purl.bioontology.org/ontology/SNOMEDCT/763320005
Preferred Name

Craniofaciofrontodigital syndrome

Definitions
A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
Synonyms
Cantu craniofaciofrontodigital syndrome
Craniofaciofrontodigital syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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