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Health care resources for this disease Expert centres Diagnostic tests 46 Patient organisations 36 Orphan designation s and orphan drug s 0. Summary Epidemiology The prevalence is unknown but less than 40 cases have been described in the literature so far. Cardiovascular malformations may also be present. Other search option s Alphabetical list. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. The craniofacial anomalies may include microcephaly, micrognathia, plagiocephaly, hypertelorism, upslanting palpebral fissures, a flat nasal bridge and ear malformations.

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