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Alveolar rhabdomyosarcoma

1 OMIM reference -
3 associated genes
No signs/symptoms info

COMMON GENES: 1

Waardenburg syndrome type 3

1 OMIM reference -
1 associated gene
24 signs/symptoms

Alveolar rhabdomyosarcoma

Waardenburg syndrome type 3

FOXO1	(UniProt - OMIM)		PAX3	(UniProt - OMIM)
PAX3	(UniProt - OMIM)
PAX7	(UniProt - OMIM)


COMMON GENES	PAX3

Citations in the biomedical literature:

Alveolar rhabdomyosarcoma		Waardenburg syndrome type 3
	Synonym(s): (no synonyms)		Synonym(s): - Klein-Waardenburg syndrome - Waardenburg syndrome with limb anomalies

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

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

	External references: 1 OMIM reference - 1 MeSH reference: D018232		External references: 1 OMIM reference - No MeSH references

Waardenburg syndrome type 3
	Very frequent - Autosomal dominant inheritance - Blepharophimosis / short palpebral fissures - Carpal bones fusion / synostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - Hearing loss / hypoacusia / deafness - Irregular length / shape of fingers - Microcephaly - Narrow nasal root - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm - Tented upper lip - Thick / bushy eyebrows - Upper limb segmental anomalies Frequent - Albinism (hair) - Atelectasia / pulmonary collapse - Telecanthus / canthal dystopy Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Atrial septal defect / interauricular communication - Camptodactyly of some fingers - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Tracheomalacia / tracheobronchomalacia
Alveolar rhabdomyosarcoma
(no data available)