Living with Split hand-foot malformation 1 with sensorineural hearing loss
An extremely rare genetic condition with split hands and feet and hearing loss.
Understanding Split hand-foot malformation 1 with sensorineural hearing loss
It is marked by split hand and split foot malformation and mild to moderate hearing loss from the inner ear. Some people also have a cleft palate or intellectual disability. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Split hands and feet
- Hearing loss (sensorineural)
- Severe short stature
- Tapered fingers
- Scoliosis
- Prominent forehead
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in DLX5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); 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 lists changes in the DLX5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: congenital deafness with split hands and feet; deafness, congenital, with split hands and feet; shfm1d; split hand-split foot-deafness syndrome; split hand-split foot-hearing loss syndrome; split hand, split foot malformation with sensorineural hearing loss 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 Split hand-foot malformation 1 with sensorineural hearing loss.
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