ODCs

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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Frontometaphyseal dysplasia

Autosomal dominant Larsen syndrome

FLNA

(UniProt - OMIM)

FLNB

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.95)	FLNB

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Autosomal dominant Larsen syndrome

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

	External references: 1 OMIM reference - 1 MeSH reference: C538064		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Hypertelorism - Long hand / arachnodactyly - Scoliosis

Frontometaphyseal dysplasia		Autosomal dominant Larsen syndrome
	Very frequent - Bowed diaphysis / diaphyses / long bones - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Diaphyseal anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Frontal sinus agenesis / anomaly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Restricted joint mobility / joint stiffness / ankylosis - Tooth shape anomaly - X-linked recessive inheritance Frequent - Abnormal vertebral size / shape - Advanced bone age - Carpal bones fusion / synostosis - Elbow dislocation - High vaulted / narrow palate - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Sensorineural deafness / hearing loss - Thumb hypoplasia / aplasia / absence - Ulnar deviation of fingers Occasional - Atrioventricular canal - Larynx / laryngeal stenosis / atresia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Tracheal atresia / stenosis - Ureteral stenosis / narrowing - Urethral anomalies / stenosis / posterior urethral valves / megalocystis		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 - Short hand / brachydactyly Frequent - Wrist / carpal anomalies Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - 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