Holoprosencephaly-craniosynostosis syndrome

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Holoprosencephaly-craniosynostosis syndrome

Synonyms: Camero-Lituania-Cohen syndrome | Genoa syndrome

Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to most commonly semilobar) and various skeletal anomalies (typically hand and feet anomalies including fifth digit clinodactyly hypoplastic phalanges and cone-shaped epiphyses small vertebral bodies scoliosis coxa valga and/or flexion deformities of hips). Craniofacial asymmetry microcephaly brachy/plagiocephaly short stature and psychomotor delay are additional common features.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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