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mesomelic dwarfism-cleft palate-camptodactyly syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009589:  mesomelic dwarfism-cleft palate-camptodactyly syndrome
GARD:0003552: 
MESH:C565404: 
Orphanet:2631: 
SCTID:715471007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found