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Charlie M syndrome

Orpha number ORPHA1406
Synonym(s) -
Prevalence Unknown
Inheritance Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Charlie M syndrome is an oromandibular-limb hypogenesis syndrome. Six such syndromes have been described as separate entities, but there is a significant overlap among them. Besides Charlie M syndrome, this group includes Moebius syndrome, hypoglossia-hypodactyly, Hanhart syndrome, glossopalatine ankylosis syndrome, and limb deficiency-spleno-gonadal fusion syndrome. Affected individuals have various degrees of tongue anomalies (aglossia, hypoglossia, ankyloglossia) and distal limb deficiencies. All the described cases were sporadic.


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