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Start free with EleplanGorlin-Chaudhry-Moss syndrome
ORPHA:2095Clinical subtype
Also called Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome · Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome · GCM syndrome
What it is
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
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- Abnormal eyelid morphology
- Abnormal foot morphology
- Abnormality of the dentition
- Abnormality of the eye
- Abnormality of vision
- Abnormal metacarpal morphology
- Brachycephaly
- Coarse hair
- Conductive hearing impairment
- Congenital craniofacial dysostosis
- Coronal craniosynostosis
- Generalized hirsutism
- Hypertelorism
- Low anterior hairline
- Nystagmus
- Oligodontia
- Short distal phalanx of finger
- Short stature
- Underdeveloped supraorbital ridges
Common30–79%
7These 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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