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Atelosteogenesis type I

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

Atelosteogenesis type I

KBG syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	ANKRD11

Citations in the biomedical literature:

Atelosteogenesis type I		KBG syndrome
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare odontologic 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: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: 1 OMIM reference - 1 MeSH reference: C537015

KBG syndrome
	Very frequent - Abnormal vertebral size / shape - Absent / decreased / thin eyebrows - Anomalies of the ribs - Autosomal dominant inheritance - Brachycephaly / flat occiput - Complete / partial macrodontia - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Intellectual deficit / mental / psychomotor retardation / learning disability - Round face - Short hand / brachydactyly - Short stature / dwarfism / nanism - Telecanthus / canthal dystopy Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - EEG anomalies - Hypertelorism - Low hair line (back) - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Short neck - Simian crease / transverse / unique palmar crease - Strabismus / squint - Syndactyly of fingers / interdigital palm Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Enamel anomaly - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Hearing loss / hypoacusia / deafness - Pointed chin - Postaxial polydactyly (hand) - Undescended / ectopic testes / cryptorchidia / unfixed testes
Atelosteogenesis type I
(no data available)