🇫🇷 Fiche Orphanet officielle

Syndrome de Kagami-Ogata lié à une disomie uniparentale paternelle du chromosome 14

ORPHA:96334Sous-type d'une pathologieCIM-10 : Q99.8CIM-11 : LD2YOMIM : 608149

Synonymes : UPD(14) paternelle · UPD(14)pat

🩺 Symptômes & manifestations cliniques

120 phénotypes HPO annotés Orphanet

🔴 Très fréquent (99-80%) — 5

Global developmental delay
Polyhydramnios
Abnormal facial shape
Large placenta
Feeding difficulties

🟠 Fréquent (79-30%) — 22

Macroglossia
Retrognathia
Short neck
Pectus excavatum
Abnormality of the skeletal system
Flexion contracture
Growth delay
Diastasis recti
Premature birth
Deep philtrum
Kyphoscoliosis
Hypoplastic iliac wing
Respiratory failure
Thoracic hypoplasia
Spontaneous abortion
Depressed nasal bridge
Microtia
Postnatal growth retardation
Limb undergrowth
Frontal hirsutism
Chin with horizontal crease
Short palpebral fissure

🟡 Occasionnel / autres (93) ↓

Coat hanger sign of ribs(Obligatoire (100%))
Cryptorchidism(Occasionel (29-5%))
Narrow mouth(Occasionel (29-5%))
Microcephaly(Occasionel (29-5%))
Wide anterior fontanel(Occasionel (29-5%))
Epicanthus(Occasionel (29-5%))
Mandibular prognathia(Occasionel (29-5%))
Short philtrum(Occasionel (29-5%))
Hypoplasia of the maxilla(Occasionel (29-5%))
Long philtrum(Occasionel (29-5%))
Micrognathia(Occasionel (29-5%))
Posteriorly rotated ears(Occasionel (29-5%))
Wide nasal bridge(Occasionel (29-5%))
Wide nose(Occasionel (29-5%))
Anteverted nares(Occasionel (29-5%))
Deeply set eye(Occasionel (29-5%))
Blepharophimosis(Occasionel (29-5%))
Short ribs(Occasionel (29-5%))
Narrow chest(Occasionel (29-5%))
Hypoplastic scapulae(Occasionel (29-5%))
Prominent sternum(Occasionel (29-5%))
Long clavicles(Occasionel (29-5%))
Anterior rib cupping(Occasionel (29-5%))
Abnormality of the costochondral junction(Occasionel (29-5%))
Hypoplastic ilia(Occasionel (29-5%))
Single transverse palmar crease(Occasionel (29-5%))
Cutis laxa(Occasionel (29-5%))
Adducted thumb(Occasionel (29-5%))
Interphalangeal joint contracture of finger(Occasionel (29-5%))
Seizure(Occasionel (29-5%))
Hypotonia(Occasionel (29-5%))
Lissencephaly(Occasionel (29-5%))
Plagiocephaly(Occasionel (29-5%))
Hepatosplenomegaly(Occasionel (29-5%))
Large for gestational age(Occasionel (29-5%))
Protuberant abdomen(Occasionel (29-5%))
Omphalocele(Occasionel (29-5%))
Laryngomalacia(Occasionel (29-5%))
Hoarse cry(Occasionel (29-5%))
Ventricular septal defect(Occasionel (29-5%))
Atrial septal defect(Occasionel (29-5%))
Hypertrophic cardiomyopathy(Occasionel (29-5%))
Small nail(Occasionel (29-5%))
Metatarsus adductus(Occasionel (29-5%))
Frontal bossing(Occasionel (29-5%))
Prominent glabella(Occasionel (29-5%))
Pulmonary hypoplasia(Occasionel (29-5%))
Restrictive ventilatory defect(Occasionel (29-5%))
Pulmonary arterial hypertension(Occasionel (29-5%))
Hepatomegaly(Occasionel (29-5%))
Drooling(Occasionel (29-5%))
Hypoplastic nipples(Occasionel (29-5%))
Wormian bones(Occasionel (29-5%))
Scoliosis(Occasionel (29-5%))
Coxa valga(Occasionel (29-5%))
Sclerosis of skull base(Occasionel (29-5%))
Hepatoblastoma(Occasionel (29-5%))
Hemivertebrae(Occasionel (29-5%))
Tibial bowing(Occasionel (29-5%))
Ulnar deviation of the wrist(Occasionel (29-5%))
Inverted nipples(Occasionel (29-5%))
External genital hypoplasia(Occasionel (29-5%))
Hernia of the abdominal wall(Occasionel (29-5%))
Short stature(Occasionel (29-5%))
Pulmonary artery stenosis(Occasionel (29-5%))
Metaphyseal spurs(Occasionel (29-5%))
Short tibia(Occasionel (29-5%))
Redundant neck skin(Occasionel (29-5%))
Absent glenoid fossa(Occasionel (29-5%))
Wide intermamillary distance(Occasionel (29-5%))
Peripheral retinal avascularization(Occasionel (29-5%))
Flexion contracture of thumb(Occasionel (29-5%))
Upper limb undergrowth(Occasionel (29-5%))
Abnormal distal phalanx morphology of finger(Occasionel (29-5%))
Broad distal phalanx of finger(Occasionel (29-5%))
Short 1st metacarpal(Occasionel (29-5%))
Spinal dysraphism(Occasionel (29-5%))
Undulate ribs(Occasionel (29-5%))
Epiphyseal stippling(Occasionel (29-5%))
Tented upper lip vermilion(Occasionel (29-5%))
Moderate global developmental delay(Occasionel (29-5%))
Severe global developmental delay(Occasionel (29-5%))
Gastrostomy tube feeding in infancy(Occasionel (29-5%))
Chin with H-shaped crease(Occasionel (29-5%))
Small proximal tibial epiphyses(Occasionel (29-5%))
Abnormal aortic arch morphology(Occasionel (29-5%))
Camptodactyly(Occasionel (29-5%))
Prominent calcaneus(Occasionel (29-5%))
Thick vermilion border(Occasionel (29-5%))
Clinodactyly of the 3rd finger(Occasionel (29-5%))
Short femoral neck(Occasionel (29-5%))
Intrauterine growth retardation(Très rare (4-1%))
Overgrowth(Très rare (4-1%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Syndrome de Kagami-Ogata lié à une disomie uniparentale paternelle du chromosome 14. 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 ↗

🧬 Gènes associés & variants

MEG314q32.2
Role in the phenotype ofAssessed
RTL114q32.2
ClinVar : 276 variants246 VUS
Role in the phenotype ofAssessed
DLK114q32.2
Role in the phenotype ofAssessed

Codifications validées (6) ↓

GARD:5409
ICD-10:Q99.8
ICD-11:LD2Y
MONDO:0011975
OMIM:608149
UMLS:C5680251

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.