🇫🇷 Fiche Orphanet officielle

Syndrome de Cockayne

ORPHA:191PathologieCIM-10 : Q87.1CIM-11 : LD2BOMIM : 133540

Définition clinique

Le syndrome de Cockayne (SC) est une maladie multisystémique caractérisée par un retard staturo-pondéral, une dysmorphie faciale, une photosensibilité, des troubles neurologiques progressifs et un déficit intellectuel.

🩺 Symptômes & manifestations cliniques

119 phénotypes HPO annotés Orphanet

🔴 Très fréquent (99-80%) — 12

Progressive microcephaly
Progressive sensorineural hearing impairment
Pigmentary retinopathy
Atypical behavior
Mental deterioration
Cerebellar atrophy
Growth delay
Severe short stature
Cachexia
Cerebral dysmyelination
Abnormality of retinal pigmentation
Postnatal growth retardation

🟠 Fréquent (79-30%) — 36

Dense calcifications in the cerebellar dentate nucleus
Cerebral calcification
Patchy demyelination of subcortical white matter
Congenital contracture
Skeletal muscle atrophy
Somatic sensory dysfunction
Reduced subcutaneous adipose tissue
Contractures of the large joints
Enamel hypoplasia
Demyelinating peripheral neuropathy
Sensorimotor neuropathy
Progressive gait ataxia
Subcortical white matter calcifications
Feeding difficulties in infancy
Peripheral neuropathy
Deeply set eye
Cataract
Progressive visual loss
Retinal dystrophy
Carious teeth
Decreased nerve conduction velocity
Cutaneous photosensitivity
Seizure
Ataxia
Global developmental delay
Gait disturbance
High-frequency sensorineural hearing impairment
Gastroesophageal reflux
Cerebral atrophy
Basal ganglia calcification
Gliosis
Fine hair
Dry hair
Abnormal eye morphology
Cognitive impairment
Premature skin wrinkling

🟡 Occasionnel / autres (71) ↓

Hyporeflexia(Occasionel (29-5%))
Hypertonia(Occasionel (29-5%))
Areflexia(Occasionel (29-5%))
Hyperreflexia(Occasionel (29-5%))
Weak cry(Occasionel (29-5%))
Splenomegaly(Occasionel (29-5%))
Intention tremor(Occasionel (29-5%))
Hyperuricemia(Occasionel (29-5%))
Hepatomegaly(Occasionel (29-5%))
Action tremor(Occasionel (29-5%))
Developmental regression(Occasionel (29-5%))
Limb hypertonia(Occasionel (29-5%))
Inability to walk(Occasionel (29-5%))
Atherosclerosis(Occasionel (29-5%))
Scoliosis(Occasionel (29-5%))
Thickened calvaria(Occasionel (29-5%))
Kyphosis(Occasionel (29-5%))
Elevated circulating hepatic transaminase concentration(Occasionel (29-5%))
Peripheral axonal neuropathy(Occasionel (29-5%))
Vascular calcification(Occasionel (29-5%))
Abnormality of epiphysis morphology(Occasionel (29-5%))
Abnormal dental morphology(Occasionel (29-5%))
Abnormal number of teeth(Occasionel (29-5%))
Retinal arteriolar constriction(Occasionel (29-5%))
Absence of pubertal development(Occasionel (29-5%))
Axial hypotonia(Occasionel (29-5%))
Primary microcephaly(Occasionel (29-5%))
Gastrostomy tube feeding in infancy(Occasionel (29-5%))
Lentiglobus(Occasionel (29-5%))
Abnormal renal physiology(Occasionel (29-5%))
Corneal ulceration(Occasionel (29-5%))
Malar rash(Occasionel (29-5%))
Stooped posture(Occasionel (29-5%))
Microphthalmia(Très rare (4-1%))
Retinal hemorrhage(Très rare (4-1%))
Retinal atrophy(Très rare (4-1%))
Absent speech(Très rare (4-1%))
Agenesis of permanent teeth(Très rare (4-1%))
Neurogenic bladder(Occasionel (29-5%))
Urinary incontinence(Occasionel (29-5%))
Cryptorchidism(Occasionel (29-5%))
Renal insufficiency(Occasionel (29-5%))
Renal hypoplasia(Occasionel (29-5%))
Proteinuria(Occasionel (29-5%))
Nephrotic syndrome(Occasionel (29-5%))
Unilateral renal agenesis(Occasionel (29-5%))
Convex nasal ridge(Occasionel (29-5%))
Abnormal cornea morphology(Occasionel (29-5%))
Strabismus(Occasionel (29-5%))
Abnormal electroretinogram(Occasionel (29-5%))
Developmental cataract(Occasionel (29-5%))
Alacrima(Occasionel (29-5%))
Hypermetropia(Occasionel (29-5%))
Optic disc pallor(Occasionel (29-5%))
Retinal degeneration(Occasionel (29-5%))
Band keratopathy(Occasionel (29-5%))
Photophobia(Occasionel (29-5%))
Miosis(Occasionel (29-5%))
Decreased lacrimation(Occasionel (29-5%))
Nystagmus(Occasionel (29-5%))
Optic atrophy(Occasionel (29-5%))
Delayed eruption of primary teeth(Occasionel (29-5%))
Dental malocclusion(Occasionel (29-5%))
Diabetes mellitus(Occasionel (29-5%))
Hypertension(Occasionel (29-5%))
Delayed puberty(Occasionel (29-5%))
Anhidrosis(Occasionel (29-5%))
Keratoconjunctivitis sicca(Occasionel (29-5%))
Intellectual disability(Occasionel (29-5%))
Spasticity(Occasionel (29-5%))
Gait disturbance(Occasionel (29-5%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Syndrome de Cockayne. Calcul automatique sur les annotations HPO/Orphanet — à confronter au tableau clinique réel.

🔬 Examens & investigations

📋 PNDS — recommandations officielles françaises

Le Protocole National de Diagnostic et Soins est le référentiel HAS pour la prise en charge d'une maladie rare en France. Environ 300 maladies en disposent (plus rare que la maladie elle-même → plus de chances qu'il n'existe pas).

🏥 Centres experts

Liste Orphanet officielle des centres experts pour cette maladie spécifique (CRMR / CCMR) — coordonnées et coordinateurs.

📍 Trouver un spécialiste près de chez vous

Entrez votre ville ou code postal pour filtrer l'annuaire MonRhumato et localiser les centres experts les plus proches.

🔍 Annuaire MonRhumato →🗺️ Google Maps ↗

Codifications validées (14) ↓

GARD:6122
ICD-10:Q87.1
ICD-11:LD2B
MONDO:0016006
MeSH:D003057
MedDRA:10009835
OMIM:133540
OMIM:214150
OMIM:216400
OMIM:278780
OMIM:610756
OMIM:610758
OMIM:616570
UMLS:C0009207

Pour aller plus loin (sources publiques)

📚 PubMed récent 🔍 Rhumatologues

Toutes les données médicales : Orphadata (Orphanet, INSERM US14, CC-BY-4.0). Variants : ClinVar (NCBI). Phénotypes : HPO (Jackson Lab). Fiche purement sourcée — aucune donnée hardcodée.