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Start free with EleplanFraser syndrome
ORPHA:2052Malformation syndrome
Also called Cryptophthalmos-syndactyly syndrome
What it is
A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Antenatal, 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%
8- Abnormality of the urinary system
- Blindness
- CryptophthalmosDiagnostic criterion
- Cutaneous syndactylyDiagnostic criterion
- Finger syndactylyDiagnostic criterion
- Lacrimal duct aplasia
- Malformed lacrimal ducts
- Renal hypoplasia/aplasiaDiagnostic criterion
Common30–79%
24- Abnormality of the middle ear
- Abnormality of the outer earDiagnostic criterion
- Abnormality of the vagina
- Abnormal nasal morphologyDiagnostic criterion
- Abnormal pinna morphology
- Ambiguous genitaliaDiagnostic criterion
- Anal atresia
- Anal stenosisDiagnostic criterion
- Anophthalmia
- Anorectal anomalyDiagnostic criterion
- Bifid tongue
- Dental crowding
- Dental malocclusion
- Depressed nasal bridge
- Female pseudohermaphroditism
- Hypertelorism
- Hypoplasia of penis
- Laryngeal hypoplasiaDiagnostic criterion
- Laryngeal stenosis
- Microphthalmia
- Posteriorly rotated earsDiagnostic criterion
- Small scrotum
- Toe syndactylyDiagnostic criterion
- Vaginal atresia
Sometimes5–29%
31- Abnormal cardiovascular system morphology
- Abnormal hair pattern
- Abnormal lung lobationDiagnostic criterion
- Atresia of the external auditory canal
- Bicornuate uterus
- Cleft ala nasi
- Cleft upper lip
- Conductive hearing impairment
and 23 more in this range
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.
Genes
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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