Living with Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
A very rare condition with hearing loss, joined hand and foot bones, genital differences, and developmental delay.
Understanding Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
It includes hearing loss from inner ear or nerve changes, fused bones in the hands and feet, genital differences (hypospadias in males), and developmental delay. Both people described had distinct facial features. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Fused bones in the hands and feet
- Joined fingers or toes (syndactyly)
- Hypospadias in males
- Facial asymmetry
- Hair loss (alopecia)
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, ear, nose, and throat 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 cause this condition. It doesn't list a specific gene or inheritance pattern.
Also known as: deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome; hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome; pfeiffer kapferer syndrome; pfeiffer-kapferer syndrome; sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5
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 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome.
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