Living with Frontonasal dysplasia with alopecia and genital anomaly
A rare syndrome with facial and skull differences, total hair loss, low hormone activity from the gonads, and mild to moderate intellectual disability.
Understanding Frontonasal dysplasia with alopecia and genital anomaly
The facial differences include early skull bone closing, a large skull defect, widely spaced eyes, a very flat nasal bridge, and a split nasal tip. Intellectual disability is mild to moderate. It starts before birth, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Total hair loss (alopecia)
- Low gonad activity (hypogonadism)
- Mild intellectual disability
- Early skull bone closing
- Wide-set eyes
- Split nose (bifid nose)
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, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ALX4 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); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 Children's Skin Disease Foundation
- 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 the ALX4 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: alx4-related fndag; craniofrontonasal dysplasia with alopecia and hypogonadism; frontonasal dysplasia type 2; frontonasal dysplasia with alopecia and genital abnomality; frontonasal dysplasia-alopecia-genital anomalies syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Frontonasal dysplasia with alopecia and genital anomaly.
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