ODCs

Click node...

Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Digitotalar dysmorphism

3 OMIM references -
5 associated genes
10 signs/symptoms

Autosomal dominant Larsen syndrome

Digitotalar dysmorphism

FLNB	(UniProt - OMIM)	MYBPC1	(UniProt - OMIM)
		MYH3	(UniProt - OMIM)
		TNNI2	(UniProt - OMIM)
		TNNT3	(UniProt - OMIM)
		TPM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	MYBPC1

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome		Digitotalar dysmorphism
	Synonym(s): (no synonyms)		Synonym(s): - DA1 - DA1A - Distal arthrogryposis type 1

	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

	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: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Autosomal dominant Larsen syndrome		Digitotalar dysmorphism
	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 - Hypertelorism - Joint dislocation / subluxation - Long hand / arachnodactyly - Short hand / brachydactyly Frequent - Wrist / carpal anomalies Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Epiphyseal anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Short stature / dwarfism / nanism - Structural anomalies of the cardio-circulatory system - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Clinodactyly of fingers 1,2,3,4 / overlapping fingers Frequent - Camptodactyly of fingers - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus - Ulnar deviation of fingers Occasional - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Microstomia / little mouth - Pes talus