A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation underossification of the skull with large fontanels short limbs with absent phalanges and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures small pointed nose microstomia micrognathia and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Syndromes Without A Name (SWAN) Australia
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