Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanCraniofrontonasal dysplasia
ORPHA:1520Malformation syndrome
Also called CFND · CFNS · Craniofrontonasal syndrome
What it is
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.
Key facts
- Age of onset
- Antenatal, Neonatal
- Inheritance
- X-linked dominant
- 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
Very common80–99%
8Common30–79%
28- Abnormality of hair texture
- Abnormality of the clavicle
- Abnormality of the dentition
- Brachydactyly
- Broad hallux phalanx
- Camptodactyly of finger
- Clinodactyly of the 5th finger
- Congenital pseudoarthrosis of the clavicle
- Downslanted palpebral fissures
- Down-sloping shoulders
- Facial asymmetry
- Finger syndactyly
- Hand polydactyly
- High palate
- Hypotonia
- Intellectual disability
- Joint hypermobility
- Low posterior hairline
- Microcephaly
- Orofacial cleft
- Plagiocephaly
- Sandal gap
- Scoliosis
- Sensorineural hearing impairment
- Sprengel anomaly
- Thickened nuchal skin fold
- Widow's peak
- Woolly hair
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.