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Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
31 signs/symptoms

Autosomal dominant Larsen syndrome

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:

Autosomal dominant Larsen syndrome		KBG syndrome
	Synonym(s): (no synonyms)		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: 1-9 / 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: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537015


COMMON SIGNS	- Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Short hand / brachydactyly - Short stature / dwarfism / nanism - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes

Autosomal dominant Larsen syndrome		KBG syndrome
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal recessive inheritance - Broad / bifid thumb - Depressed nasal bridge - 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 - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Structural anomalies of the cardio-circulatory system - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Abnormal vertebral size / shape - Absent / decreased / thin eyebrows - Anomalies of the ribs - Brachycephaly / flat occiput - Complete / partial macrodontia - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Round face - Telecanthus / canthal dystopy Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - EEG anomalies - Low hair line (back) - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Short neck - Simian crease / transverse / unique palmar crease - Strabismus / squint Occasional - Enamel anomaly - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Hearing loss / hypoacusia / deafness - Pointed chin - Postaxial polydactyly (hand)