Syndrome de Turner par anomalies de structure du chromosome X
🩺 Symptômes & manifestations cliniques
113 phénotypes HPO annotés Orphanet
🔴 Très fréquent (99-80%) — 21
- Abnormality of the ovary
- Short neck
- Delayed puberty
- Increased circulating gonadotropin level
- Short sternum
- Osteopenia
- Osteoporosis
- Growth delay
- Intrauterine growth retardation
- Delayed skeletal maturation
- Cubitus valgus
- High urinary gonadotropins (primary hypogonadism)
- Short stature
- Wide intermamillary distance
- Aplasia/Hypoplasia of the nipples
- Premature ovarian insufficiency
- Female infertility
- Postnatal growth retardation
- Increased upper to lower segment ratio
- Abnormal forearm bone morphology
- Enlarged thorax
🟠 Fréquent (79-30%) — 37
- High palate
- Retrognathia
- Micrognathia
- Hearing impairment
- Low-set ears
- Recurrent otitis media
- Webbed neck
- Thickened nuchal skin fold
- Broad neck
- Atypical behavior
- Anxiety
- Impaired use of nonverbal behaviors
- Primary amenorrhea
- Hypertension
- Secondary amenorrhea
- Hashimoto thyroiditis
- Shield chest
- Specific learning disability
- Hepatic steatosis
- Obesity
- Failure to thrive in infancy
- Hypoplastic toenails
- Glucose intolerance
- Low posterior hairline
- High, narrow palate
- Kyphosis
- Genu valgum
- Elevated circulating hepatic transaminase concentration
- Dilatation of the aortic arch
- Dermatoglyphic ridges abnormal
- Enlargement of the distal femoral epiphysis
- Irregular proximal tibial epiphyses
- Abnormal dermatoglyphics
- Neck pterygia
- Short 4th metacarpal
- Short 5th metacarpal
- Hypermobility of toe joints
🟡 Occasionnel / autres (55) ↓
- Abnormal pinna morphology(Occasionel (29-5%))
- Short toe(Occasionel (29-5%))
- Celiac disease(Occasionel (29-5%))
- Cholestatic liver disease(Occasionel (29-5%))
- Scoliosis(Occasionel (29-5%))
- Autoimmunity(Occasionel (29-5%))
- Melanocytic nevus(Occasionel (29-5%))
- Lymphedema(Occasionel (29-5%))
- Vitiligo(Occasionel (29-5%))
- Abnormal fingernail morphology(Occasionel (29-5%))
- Hip dysplasia(Occasionel (29-5%))
- Hepatic fibrosis(Occasionel (29-5%))
- Alopecia(Occasionel (29-5%))
- Atrial septal defect(Occasionel (29-5%))
- Bicuspid aortic valve(Occasionel (29-5%))
- Prolonged QT interval(Occasionel (29-5%))
- Myocardial infarction(Occasionel (29-5%))
- Coarctation of aorta(Occasionel (29-5%))
- Pes planus(Occasionel (29-5%))
- Hyperconvex fingernails(Occasionel (29-5%))
- Madelung deformity(Occasionel (29-5%))
- Inverted nipples(Occasionel (29-5%))
- Nevus(Occasionel (29-5%))
- Reduced bone mineral density(Occasionel (29-5%))
- Numerous congenital melanocytic nevi(Occasionel (29-5%))
- Type II diabetes mellitus(Occasionel (29-5%))
- Attention deficit hyperactivity disorder(Occasionel (29-5%))
- Aplasia/Hypoplasia of the mandible(Occasionel (29-5%))
- Splayed toes(Occasionel (29-5%))
- Delayed social development(Occasionel (29-5%))
- Thyroiditis(Occasionel (29-5%))
- Gonadoblastoma(Très rare (4-1%))
- Gastrointestinal angiodysplasia(Très rare (4-1%))
- Cirrhosis(Très rare (4-1%))
- Inflammation of the large intestine(Très rare (4-1%))
- Biliary cirrhosis(Très rare (4-1%))
- Aortic dissection(Très rare (4-1%))
- Melanoma(Très rare (4-1%))
- Hypoplastic left heart(Très rare (4-1%))
- Gastrointestinal inflammation(Très rare (4-1%))
- Arterial dissection(Très rare (4-1%))
- Renal hypoplasia/aplasia(Très rare (4-1%))
- Neurodevelopmental delay(Très rare (4-1%))
- Horseshoe kidney(Occasionel (29-5%))
- Ectopic kidney(Occasionel (29-5%))
- Abnormality of the dentition(Occasionel (29-5%))
- Epicanthus(Occasionel (29-5%))
- Cystic hygroma(Occasionel (29-5%))
- Strabismus(Occasionel (29-5%))
- Ptosis(Occasionel (29-5%))
- Myopia(Occasionel (29-5%))
- Depression(Occasionel (29-5%))
- Pectus excavatum(Occasionel (29-5%))
- Hyperinsulinemia(Occasionel (29-5%))
- Atypical scarring of skin(Occasionel (29-5%))
🔀 Diagnostic différentiel
Maladies rares qui partagent le plus de phénotypes discriminants avec Syndrome de Turner par anomalies de structure du chromosome X. Calcul automatique sur les annotations HPO/Orphanet — à confronter au tableau clinique réel.
- 100%
Syndrome de Turner
ORPHA:881 · 8/8 phénotypes en commun
- 100%
Syndrome de monosomie x
ORPHA:99226 · 8/8 phénotypes en commun
- 100%
Syndrome de monosomie x en mosaïque
ORPHA:99228 · 8/8 phénotypes en commun
- 63%
Syndrome d'hypogonadisme hypergonadotrope primaire-alopécie partielle
ORPHA:2232 · 5/8 phénotypes en commun
- 50%
Hyalinose systémique infantile
ORPHA:2176 · 4/8 phénotypes en commun
- 50%
Maladie de Gaucher type 1
ORPHA:77259 · 4/8 phénotypes en commun
🔬 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.
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Codifications validées (6) ↓
- ICD-10:Q96.1
- ICD-10:Q96.2
- ICD-11:LD50.01
- ICD-11:LD50.02
- MONDO:0020472
- UMLS:C5681631