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ORPHA:391474Malformation syndrome
Also called ALX3-related frontonasal dysplasia · Frontonasal dysplasia type 1 · Isolated median cleft face syndrome
What it is
A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.
Key facts
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)Frontonasal dysplasia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
27- Aplasia/Hypoplasia of the corpus callosum
- Basal encephalocele
- Bifid tongue
- Brachydactyly
- Camptodactyly of finger
- Cataract
- Cleft palate
- Congenital conductive hearing impairment
- Cranium bifidum occultum
- Dermoid cyst
- Encephalocele
- Epicanthus
- Finger clinodactyly
- Hypertelorism
- Hypoplasia of the maxilla
- Hypoplastic frontal sinuses
- Iris coloboma
- Lumbar hyperlordosis
- Microphthalmia
- Midline nasal groove
- Pericallosal lipoma
- Posteriorly rotated ears
- Preauricular skin tag
- Ptosis
- Scoliosis
- Strabismus
- Widow's peak
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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