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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Stapes ankylosis with broad thumbs and toes
Brachydactyly type B2

NOG NOG


COMMON
GENES
NOG



Citations in the biomedical literature:


Stapes ankylosis with broad thumbs and toes
NOG
Brachydactyly type B2



Stapes ankylosis with broad thumbs and toes
Brachydactyly type B2

Synonym(s):
- Teunissen-Cremers syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: autosomal dominant
Epidemiological data:
(no data available)

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

Brachydactyly type B2

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia

Frequent
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm



Stapes ankylosis with broad thumbs and toes

(no data available)