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1 OMIM reference -
2 associated genes
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
33 signs/symptoms
Lethal restrictive dermopathy
Frontometaphyseal dysplasia

LMNA FLNA
ZMPSTE24


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.73)
FLNA



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
Frontometaphyseal dysplasia
FLNA



Lethal restrictive dermopathy
Frontometaphyseal dysplasia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- 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: x-linked dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538064


COMMON
SIGNS
- Diaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis


Lethal restrictive dermopathy
Frontometaphyseal dysplasia

Very frequent
- Absent / decreased lashes
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Early death / lethality
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Mouth held open
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rough trabeculation of bone
- Short / small nose
- 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
- Atrial septal defect / interauricular communication
- Bladder and ureter anomalies
- Blepharophimosis / short palpebral fissures
- Clavicle absent / abnormal
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Complete claw hand / camptodactyly of all fingers
- Eyebrows anomalies
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypospadias / epispadias / bent penis
- Kyphosis
- 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
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Frontal sinus agenesis / anomaly
- Hypertelorism
- Metaphyseal anomaly
- Prominent supraorbital ridge
- Tooth shape anomaly
- X-linked recessive inheritance

Frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Carpal bones fusion / synostosis
- Conductive deafness / hearing loss
- Elbow dislocation
- High vaulted / narrow palate
- Long hand / arachnodactyly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Sensorineural deafness / hearing loss
- Thumb hypoplasia / aplasia / absence
- Ulnar deviation of fingers

Occasional
- Atrioventricular canal
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Larynx / laryngeal stenosis / atresia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Tracheal atresia / stenosis
- Ureteral stenosis / narrowing
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis