Living with Roberts-SC phocomelia syndrome
A genetic condition from before birth that affects the arms and legs, the face, and growth.
Understanding Roberts-SC phocomelia syndrome
Babies are born with differences in all four limbs, with arms usually more affected than legs. Bones may be short, fingers and toes may be missing, and joints stiff. Facial features can include cleft lip or palate, a small chin, and wide-set eyes. About half of people have mild to severe intellectual disability. Heart, kidney, and genital differences are possible.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short arm and leg bones
- Absent or small thumbs
- Cleft lip or palate
- Small head size (microcephaly)
- Global developmental delay
- Slow growth after birth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, ear, nose, and throat specialists and eye disease specialists.
- 3Consider genetic testing
Changes in ESCO2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FACES: The National Craniofacial Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the ESCO2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: appelt-gerken-lenz syndrome; esco2 spectrum disorder; hypomelia hypotrichosis facial hemangioma syndrome; hypomelia-hypotrichosis-facial hemangioma syndrome; long bone deficiencies associated with cleft lip-palate; phocomelia-pseudothalidomide syndrome
Patient organizations
- FACES: The National Craniofacial AssociationRoberts-SC phocomelia syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Roberts-SC phocomelia syndrome.
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