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1 OMIM reference -
2 associated genes
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
1 OMIM reference -
1 associated gene
64 signs/symptoms
Lethal restrictive dermopathy
3C syndrome

LMNA KIAA0196
ZMPSTE24


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.63)
KIAA0196



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
3C syndrome
KIAA0196



Lethal restrictive dermopathy
3C syndrome

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: before age 5
Type of inheritance: autosomal dominant
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535313


COMMON
SIGNS
- Atrial septal defect / interauricular communication
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypospadias / epispadias / bent penis
- Kyphosis
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Short / small nose


Lethal restrictive dermopathy
3C syndrome

Very frequent
- Absent / decreased lashes
- Anomalies of teeth and dentition
- Early death / lethality
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Microstomia / little mouth
- Mouth held open
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Rough trabeculation of bone
- Stillbirth / neonatal death
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Frequent
- Adrenal glands anomalies
- Anomalies of chest / thorax / trunk
- Anomalies of eyelids, eyelashes and lacrimal system
- Bladder and ureter anomalies
- Blepharophimosis / short palpebral fissures
- Clavicle absent / abnormal
- Complete claw hand / camptodactyly of all fingers
- Diaphyseal anomaly
- Eyebrows anomalies
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Lanugo
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Patent ductus arteriosus
- Polyhydramnios

Occasional
- Aortic root dilatation / dilation / aneurysm
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus


Very frequent
- Broad nasal root
- Dandy-Walker anomaly
- Frontal bossing / prominent forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Atrioventricular canal
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- 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
- 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
- Short stature / dwarfism / nanism
- 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
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Inguinal / inguinoscrotal / crural hernia
- Intestinal / gut / bowel malrotation
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- 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