Living with Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
An extremely rare condition present at birth with neck muscle tightness, thick scars, and kidney and genital differences.
Understanding Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
It includes congenital muscular torticollis, skin changes such as multiple keloids (raised scars) and pigmented moles, undescended testes, hypospadias, and kidney dysplasia. Varicose veins, intellectual disability, and bone and muscle differences have also been reported. It is noticed in the newborn period or infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Twisted neck from tight muscle (congenital muscular torticollis)
- Raised scars (keloids) and pigmented moles
- Undescended testes (cryptorchidism)
- Opening of the urethra on the underside of the penis (hypospadias)
- Kidney problems (renal dysplasia)
- Intellectual disability
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 genetic specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- 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
GARD says changes in genes (variants) cause this condition and that it is X-linked, which means the gene is on the X chromosome. It doesn't name a specific gene.
Also known as: goeminne syndrome; goeminne tkcr syndrome; tkcr syndrome; torticollis, keloids, cryptorchidism, and renal dysplasia
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 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome.
Explore research for Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Explore actively recruiting Torticollis-keloids-cryptorchidism-renal dysplasia syndrome studies with HealthSpark.
Find actively recruiting studies for Torticollis-keloids-cryptorchidism-renal dysplasia syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Torticollis-keloids-cryptorchidism-renal dysplasia syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Torticollis-keloids-cryptorchidism-renal dysplasia syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.