Living with Facial dysmorphism-shawl scrotum-joint laxity syndrome
A very rare inherited condition with distinct facial features, very flexible joints, and a genital difference in boys.
Understanding Facial dysmorphism-shawl scrotum-joint laxity syndrome
It was described in two people, a mother and her son. It is seen in newborns. The boy also had an undescended testis and a shawl scrotum (the scrotum wraps around the penis), and the mother had mild intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Eyes set wide apart with drooping eyelids
- Very flexible joints
- Knock knees
- Mild intellectual disability
- Low-set, prominent ears
- Shawl scrotum
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in genes cause this condition. GARD does not name the gene or how it is inherited.
Also known as: hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies; seaver cassidy syndrome; seaver-cassidy syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Facial dysmorphism-shawl scrotum-joint laxity syndrome.
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