Living with Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
A very rare condition reported in one family, with distinct facial features, poor appetite, body wasting, and eye and skin changes.
Understanding Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
It has been reported in only three members of one family. The pattern of inheritance and the genetic cause are not yet known.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor appetite (anorexia)
- Muscle wasting
- Drooping upper eyelid (ptosis)
- Curved spine (scoliosis or kyphosis)
- Short stature
- Café-au-lait spots
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.
- 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)
- 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 the genetic cause and how it is inherited have not been established.
Also known as: faces (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome; faces syndrome; facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome; friedman goodman syndrome; friedman-goodman 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-anorexia-cachexia-eye and skin anomalies syndrome.
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