ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Waardenburg syndrome type 3

Hypodontia - dysplasia of nails


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3	(0.82)	MSX1

Citations in the biomedical literature:

Waardenburg syndrome type 3		Hypodontia - dysplasia of nails
	Synonym(s): - Klein-Waardenburg syndrome - Waardenburg syndrome with limb anomalies		Synonym(s): - Hypodontia - nail dysgenesis - Tooth and nail syndrome - Witkop syndrome

	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 (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Waardenburg syndrome type 3		Hypodontia - dysplasia of nails
	Very frequent - 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		Very frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Nails anomalies - Thin / hypoplastic toenails - Tooth shape anomaly Frequent - Everted lower lip - Fine hair Occasional - Abnormal / polycystic ovaries