Synonyms: BOS syndrome | Bohring syndrome | C-like syndrome | Oberklaid-Danks syndrome | Opitz trigonocephaly-like syndrome
A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR) postnatal failure to thrive severe feeding difficulties microcephaly/trigonocephaly facial dysmorphism a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders flexion of the elbows ulnar deviation of wrists and/or metacarpophalangeal joints.
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.
Newly diagnosed with
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ASXL Rare Research Endowment Foundation
Our mission is to support research and education that lead to improved quality of life for individuals with ASXL syndromes.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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