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Start free with EleplanCohen syndrome
ORPHA:193Malformation syndrome
What it is
A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
29- Abnormal eyelash morphology
- Abnormal eyelid morphology
- Abnormality of speech or vocalization
- Abnormality of the dentition
- Aplasia/Hypoplasia of the tongue
- Arachnodactyly
- Chorioretinal dystrophy
- Decreased total neutrophil count
- Downslanted palpebral fissures
- Gingival overgrowth
- Global developmental delay
- High, narrow palate
- Hypoplasia of the maxilla
- Hypoplasia of the zygomatic bone
- Hypotonia
- Intellectual disability
- Long eyelashes
- Low anterior hairline
- Microcephaly
- Micrognathia
- Myopia
- Open mouth
- Prominent nasal bridge
- Sandal gap
- Short philtrum
- Slender toe
- Tapered finger
- Thick eyebrow
- Tooth agenesis
Common30–79%
18- Abnormality of skin pigmentation
- Cat cry
- Clinodactyly of the 5th finger
- Cubitus valgus
- Decreased fetal movement
- Delayed puberty
- Failure to thrive in infancy
- Feeding difficulties in infancy
- Finger syndactyly
- Genu valgum
- Intrauterine growth retardation
- Joint hypermobility
- Macrodontia
- Narrow palm
- Obesity
- Short stature
- Thick hair
- Weak cry
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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