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Adams-Oliver syndrome (type 2)
Genetics:
- associated with defects in DOCK6
Clinical manifestations:
- congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects
- absence of skin may occur anywhere on the body
- most frequently occurs on the posterior parietal region often associated with an underlying defect of the parietal bones
- limb defects include limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly)
- rarely, metatarsals/metacarpals or more proximal limb structures are also affected
- syndactyly, most commonly of second & third toes, may also occur
- clinical features are highly variable & can also include:
- cardiovascular malformations
- brain abnormalities
- vascular defects such as
- cutis marmorata
- dilated scalp veins
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 614219
References
OMIM :accession 614219