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Atelosteogenesis type I

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Spondylocarpotarsal synostosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Atelosteogenesis type I

Spondylocarpotarsal synostosis

FLNB

(UniProt - OMIM)

FLNB

(UniProt - OMIM)


COMMON GENES	FLNB

Citations in the biomedical literature:

Atelosteogenesis type I		Spondylocarpotarsal synostosis
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: childhood Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: 1 OMIM reference - No MeSH references

Spondylocarpotarsal synostosis
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys - Sensorineural deafness / hearing loss
Atelosteogenesis type I
(no data available)