KLHL7-related Bohring-Opitz-like syndrome
Synonyms: KLHL7-related BOS-like syndrome
A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome like intrauterine growth retardation facial dysmorphism microcephaly severe feeding difficulties joint contractures intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly synophrys high myopia and cyclic emesis are on the contrary very rarely described.
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 October 2023.
Newly diagnosed with
KLHL7-related Bohring-Opitz-like syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.