SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1177179002
http://purl.bioontology.org/ontology/SNOMEDCT/1177179002
Preferred Name

Oral-facial-digital syndrome with short stature and brachymesophalangia

Definitions
A rare ciliopathy with characteristics of oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangia, polydactyly) and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.
Synonyms
Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder)
Orofaciodigital syndrome type 18
OFD18 - oral-facial-digital syndrome type 18
Type http://www.w3.org/2002/07/owl#Class
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