ODCs

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Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

Autosomal dominant Larsen syndrome

Fibrochondrogenesis

FLNB	(UniProt - OMIM)		COL11A1	(UniProt - OMIM)
			COL11A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	COL11A2

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome		Fibrochondrogenesis

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal 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: autosomal dominant

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


COMMON SIGNS	- Absent / small fingernails / anonychia of hands - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Hypertelorism - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Short hand / brachydactyly - Short stature / dwarfism / nanism

Autosomal dominant Larsen syndrome		Fibrochondrogenesis
	Very frequent - Autosomal dominant inheritance - Broad / bifid thumb - Depressed premaxillary region / midface - Flat face - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Long hand / arachnodactyly Frequent - Wrist / carpal anomalies Occasional - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Epiphyseal anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Scoliosis - Structural anomalies of the cardio-circulatory system - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Abnormal vertebral size / shape - Anomalies of the ribs - Diaphyseal anomaly - Flared chest / bell-shaped thorax / shield chest - Large fontanelle / delayed fontanelle closure - Metaphyseal anomaly - Narrow rib cage / thorax - Proptosis / exophthalmos - Round face - Short limbs / micromelia / brachymelia - Short neck - Stillbirth / neonatal death Frequent - Anomalies of ear and hearing - Anteverted nares / nostrils - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Camptodactyly of fingers - Mesomelic micromelia - Omphalocele / exomphalos - Plagiocephaly