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Cenani-Lenz syndrome
1 OMIM reference -
1 associated gene
4 connected diseases
43 signs/symptoms
Disease Type of connection
Postsynaptic congenital myasthenic syndromes
Sclerosteosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Usher syndrome type 2
Synonym(s):
- Cenani syndactyly
- Cenani-Lenz syndactyly
- Syndactyly type 7

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
LRP4 O75096604270
Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal recessive inheritance
- Carpal bones fusion / synostosis
- Metacarpal anomalies / Archibald's sign
- Oligodactyly / ectrodactyly of fingers
- Syndactyly of fingers / interdigital palm
- Synostosis

Frequent
- Absent / small toenails / anonychia of feet
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Frontal bossing / prominent forehead
- Hypertelorism
- Radioulnar synostosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Syndactyly of toes
- Thumb hypoplasia / aplasia / absence
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Abnormal dermatoglyphics
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Beaked nose
- Cataract / lens opacification
- Ectopic / horseshoe / fused kidneys
- Ectropion / entropion / eyelid eversion
- Elbow dislocation
- Enamel anomaly
- Flat cheek bones / malar hypoplasia
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypothyroidy
- Laryngomalacia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Oligodactyly / ectrodactyly of toes
- Prominent / bat ears
- Proptosis / exophthalmos
- Ptosis
- Rib structure anomalies
- Scoliosis
- Short limbs / micromelia / brachymelia
- Short philtrum
- Short / small nose
- Vertebral segmentation anomaly / hemivertebrae