ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
33 signs/symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2B

Freeman-Sheldon syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF	(0.63)	MYH3

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2B		Freeman-Sheldon syndrome
	Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency		Synonym(s): - Craniocarpotarsal dysplasia - Craniocarpotarsal dystrophy - Distal arthrogryposis type 2A - Whistling face syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal recessive		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 - 1 MeSH reference: C535483

Freeman-Sheldon syndrome
	Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Autosomal dominant inheritance - Broad nasal root - Broad nose / nasal bridge - Camptodactyly of fingers - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - Grooved / dimple chin - Hypertelorism - Limited opening of the mouth - Long / large / bulbous nose - Microstomia / little mouth - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Talipes-varus / metatarsal varus - Thin / hypoplastic ala nasi - Ulnar deviation of fingers Frequent - Deepset eyes / enophthalmos - Fetal immobility / abnormal fetal movements - Hearing loss / hypoacusia / deafness - Long philtrum - Malignant hyperthermia - Ptosis - Short stature / dwarfism / nanism - Small / triangular nares / nostrils - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absence of palmar creases - Autosomal recessive inheritance - Herniae - Oligoamnios - Polyhydramnios
Autosomal recessive limb-girdle muscular dystrophy type 2B
(no data available)