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Start free with EleplanFrontonasal dysplasia-alopecia-genital anomalies syndrome
ORPHA:228390Malformation syndrome
Also called ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism · Frontonasal dysplasia type 2 · Frontonasal dysplasia with alopecia and genital abnomality
What it is
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
19- Alopecia
- Anteverted nares
- Bifid nose
- Brachycephaly
- Broad philtrum
- Coronal craniosynostosis
- Cryptorchidism
- Depressed nasal bridge
- Encephalocele
- Hypertelorism
- Hypogonadism
- Intellectual disability, mild
- Intellectual disability, moderate
- Nystagmus
- Skull defect
- Strabismus
- Telecanthus
- Underdeveloped nasal alae
- Upslanted palpebral fissure
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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