Condition
Roberts-SC phocomelia syndrome is an extremely rare autosomal recessive genetic disorder caused by mutations in the ESCO2 gene. It is characterized by severe pre- and postnatal growth retardation, symmetrical limb reduction (ranging from hypomelia to phocomelia), craniofacial anomalies like cleft lip/palate, and variable intellectual disability.
Details
Continue Your Journey
Follow the connected challenge areas, STAR Paths, and related resources to keep moving through the support network.
Related Resources
These resources are connected through shared Atlas categories.
Condition
Fanconi anemia (FA) is a rare genetic disease caused by mutations in any of the known 23 genes (including genes such as BRCA1 and BRCA2) that play a role in the FA DNA repair pathway. Dysfunctional DNA repair in all cells of the body means that people living with FA have a very high risk of developing bone marrow failure and cancer in addition to many other systemic issues. FA affects both males and females equally and is found in all ethnic groups.
View related resource →
Condition
Arthrogryposis multiplex congenita (AMC) is a rare condition present at birth where a baby has multiple stiff, contracted joints and weak muscles. It means the joints do not bend or extend fully and may be permanently fixed in place. It affects roughly 1 in 3,000 live births.
View related resource →
Condition
Holt-Oram syndrome is a disorder that affects approximately 1 in 100,000 individuals. It is characterized by abnormalities in the bones of the upper limb, a family or personal history of a congenital heart malformation, and/or an abnormality in the electrical impulses that coordinate the muscle contractions of the heart (cardiac conduction defect).
View related resource →
Condition
TAR syndrome is a rare genetic disorder characterized by missing radius bones in both forearms and low platelet counts (thrombocytopenia), which can cause serious bleeding, especially during infancy. Affected individuals usually have thumbs despite the absent radii and may also have additional skeletal, heart, kidney, or facial abnormalities, while platelet levels often improve with age.
View related resource →
Speak with a STAR Guide
Every journey starts somewhere. A STAR Guide can help you explore options, identify resources, discover funding opportunities, and build a path forward based on your goals.
Speak with a STAR Guide