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Cenani-Lenz syndrome

1 OMIM reference -
1 associated gene
43 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

2 OMIM references -
2 associated genes
15 signs/symptoms

Cenani-Lenz syndrome

Sclerosteosis

LRP4	(UniProt - OMIM)		LRP4	(UniProt - OMIM)
			SOST	(UniProt - OMIM)


COMMON GENES	LRP4

Citations in the biomedical literature:

Cenani-Lenz syndrome		Sclerosteosis
	Synonym(s): - Cenani syndactyly - Cenani-Lenz syndactyly - Syndactyly type 7		Synonym(s): - Cortical hyperostosis - syndactyly

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537525


COMMON SIGNS	- Autosomal recessive inheritance - Ptosis - Syndactyly of fingers / interdigital palm

Cenani-Lenz syndrome		Sclerosteosis
	Very frequent - Absent / small fingernails / anonychia of hands - Carpal bones fusion / synostosis - Metacarpal anomalies / Archibald's sign - Oligodactyly / ectrodactyly of fingers - 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 - Rib structure anomalies - Scoliosis - Short limbs / micromelia / brachymelia - Short philtrum - Short / small nose - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Broad nose / nasal bridge - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Dysplastic / thick / grooved fingernails - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - Irregular length / shape of fingers - Osteosclerosis / osteopetrosis / bone condensation - Tall stature / gigantism / growth acceleration Frequent - Facial palsy - Sensorineural deafness / hearing loss Occasional - Optic nerve anomaly / optic atrophy / anomaly of the papilla