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CLAPO syndrome
Disease definition
CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).
ORPHA:168984
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.3
- OMIM: 613089
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
It has been described in six unrelated patients.
Clinical description
Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments.
Genetic counseling
Inheritance of this association is not known.
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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