Oral-facial-digital syndrome with short stature and brachymesophalangy

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Oral-facial-digital syndrome with short stature and brachymesophalangy

Synonyms: OFD18 | Oral-facial-digital syndrome type 18 | Orofaciodigital syndrome type 18

A rare ciliopathy characterized by 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 brachymesophalangy polydactyly) and short stature. Additional reported manifestations include short femoral neck bilateral cervical ribs abnormal vertebral bodies and gracile long bones.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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