ODCs

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3C syndrome

1 OMIM reference -
1 associated gene
26 connected diseases
64 signs/symptoms

Disease	Type of connection
Autosomal dominant spastic paraplegia type 8
Autosomal recessive nonsyndromic intellectual deficit
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, KÃ¶bberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Glycogen storage disease due to liver phosphorylase kinase deficiency

Synonym(s): - Craniocerebellocardiac dysplasia - Ritscher-Schinzel syndrome

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - 1 MeSH reference: C535313

Gene symbol	UniProt reference	OMIM reference
KIAA0196	Q12768	610657

Very frequent

- Autosomal recessive inheritance
- Broad nasal root
- Dandy-Walker anomaly
- Frontal bossing / prominent forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent

- Atrial septal defect / interauricular communication
- Atrioventricular canal
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Death in infancy
- Depressed nasal bridge
- Dilated cerebral ventricles without hydrocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High vaulted / narrow palate
- Hydrocephaly
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic left heart / ventricle
- Kyphosis
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Motor deficit / trouble
- Prominent occiput / occipital bossing
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Repeat respiratory infections
- Scoliosis
- Short stature / dwarfism / nanism
- Short / small nose
- Tetralogy of Fallot / trilogy of Fallot
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Ventricular septal defect / interventricular communication

Occasional

- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anus ectopia / anteposition / malposition
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft lip and palate
- Coloboma of iris
- Cortico-adrenal hypoplasia / insufficiency
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Glaucoma
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Inguinal / inguinoscrotal / crural hernia
- Intestinal / gut / bowel malrotation
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Preauricular / branchial tags / appendages
- Retinoschisis / retinal / chorioretinal coloboma
- Rib number anomalies
- Short hand / brachydactyly
- Short neck
- Single umbilical artery
- Syndactyly of fingers / interdigital palm
- Thin / hypoplastic / hyperconvex fingernails
- Upper limb polydactyly / hexadactyly
- Vertebral segmentation anomaly / hemivertebrae