Living with Autosomal recessive faciodigitogenital syndrome
A very rare inherited syndrome affecting height, the face, the hands, and the scrotum.
Understanding Autosomal recessive faciodigitogenital syndrome
It is present from birth. Facial features can include wide-set eyes, a long face, a long philtrum (the groove above the lip), and a prominent forehead. Hand differences include fused fingers and curved little fingers. Joints can be very flexible.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short height
- Wide-set eyes
- Long face and long philtrum
- Forehead that sticks out
- Fused fingers (syndactyly)
- Very flexible joints
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, 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: aarskog-like syndrome; autosomal recessive facio-digito-genital syndrome; facio-digito-genital syndrome kuwait type; facio-digito-genital syndrome, kuwait type; teebi naguib alawadi syndrome; teebi-naguib-alawadi 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 Autosomal recessive faciodigitogenital syndrome.
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