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Start free with EleplanCoffin-Lowry syndrome
ORPHA:192Malformation syndrome
Also called CLS
What it is
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- X-linked dominant
- 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%
31- Abnormal dental morphology
- Abnormal diaphysis morphology
- Abnormal form of the vertebral bodies
- Abnormality of speech or vocalization
- Anteverted nares
- Broad finger
- Coarse facial features
- Craniofacial hyperostosis
- Delayed skeletal maturation
- Depressed nasal bridge
- Downslanted palpebral fissures
- Epicanthus
- Everted lower lip vermilion
- Frontal bossing
- Hypertelorism
- Hypodontia
- Hypotonia
- Intellectual disability
- Joint hypermobility
- Kyphosis
- Large hands
- Open mouth
- Pectus carinatum
- Pectus excavatum
- Scoliosis
- Severe global developmental delay
- Short stature
- Tapered finger
- Thick lower lip vermilion
- Thick nasal alae
- Widely spaced teeth
Common30–79%
26- Conical incisor
- Feeding difficulties in infancy
- Gait disturbance
- High palate
- Hyperconvex fingernails
- Hypertonia
- Hypoplasia of the maxilla
- Hypoplastic fingernail
- Microcephaly
- Narrow iliac wings
- Narrow palate
- Pes planus
- Postnatal growth retardation
- Premature loss of teeth
- Progressive spasticity
- Prominent forehead
- Protruding ear
- Pseudoepiphyses of the metacarpals
- Redundant skin
- Short chordae tendineae of the mitral valve
- Short chordae tendineae of the tricuspid valve
- Short distal phalanx of finger
- Short metacarpal
- Ventriculomegaly
- Wide mouth
- Wide nose
Sometimes5–29%
24- Abnormal aortic valve morphology
- Abnormality of neuronal migration
- Abnormality of retinal pigmentation
- Abnormal mitral valve morphology
- Abnormal tricuspid valve morphology
- Advanced eruption of teeth
- Aplasia/Hypoplasia of the cerebellum
- Aplasia/Hypoplasia of the corpus callosum
and 16 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.
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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