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

COMMON GENES: 1

Langer-Giedion syndrome

1 OMIM reference -
2 associated genes
40 signs/symptoms

Chondrosarcoma

Langer-Giedion syndrome

EXT1	(UniProt - OMIM)		EXT1	(UniProt - OMIM)
			TRPS1	(UniProt - OMIM)


COMMON GENES	EXT1

Citations in the biomedical literature:

Chondrosarcoma		Langer-Giedion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Deletion 8q24.1 - Monosomy 8q24.1 - Trichorhinophalangeal syndrome type 2

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D002813		External references: 1 OMIM reference - 2 MeSH references: C536555 / D015826

Langer-Giedion syndrome
	Very frequent - Autosomal dominant inheritance - Bone pain - Bone tumefaction / swelling - Cone epiphyses / epiphysis - Delayed bone age - Exostoses - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insterstitial / subtelomeric microdeletion / deletion - Long philtrum - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Philtrum flat / large / featureless / absent cupidon bows - Prominent / bat ears - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Intellectual deficit / mental / psychomotor retardation / learning disability - Joint dislocation / subluxation - Loose skin / skin relaxation / excess skin / creases - Thick / bushy eyebrows Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Broad nose / nasal bridge - Conductive deafness / hearing loss - Congenital cardiac anomaly / malformation / cardiopathy - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flared / thick ala nasi - Genu valgum - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypotonia - Microcephaly - Recurrent urinary infections - Short hand / brachydactyly - Simian crease / transverse / unique palmar crease - Supernumerary teeth / polyodontia - Talipes-varus / metatarsal varus - Vesicorenal / vesicoureteral reflux
Chondrosarcoma
(no data available)