Stapes ankylosis with broad thumbs and toes

General Information (adopted from Orphanet):

Synonyms, Signs: STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY
teunissen-cremers syndrome
Number of Symptoms 19
OrphanetNr: 140917
OMIM Id: 184460
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003189) Long nose frequent [HPO] 10069712 IBIS 20 / 7739
2
 (HPO:0009765) Low hanging columella frequent [HPO] 2319886 IBIS 9 / 7739
3
 (HPO:0000430) Underdeveloped nasal alae frequent [HPO] 10069712 IBIS 90 / 7739
4
 (HPO:0000466) Limited neck range of motion 3/6 [HPO] 5 / 7739
5
 (HPO:0000540) Hypermetropia hallmark [HPO] 99 / 7739
6
 (HPO:0007943) Congenital stapes ankylosis hallmark [HPO] 1 / 7739
7
 (HPO:0000405) Conductive hearing impairment hallmark [HPO] 164 / 7739
8
 (HPO:0000381) Stapes ankylosis hallmark [HPO:probinson] 7 / 7739
9
 (HPO:0001159) Syndactyly 140 / 7739
10
 (HPO:0001770) Toe syndactyly frequent [HPO] 149 / 7739
11
 (HPO:0009177) Proximal/middle symphalangism of 5th finger 4 / 7739
12
 (HPO:0009882) Short distal phalanx of finger common [HPO] 2319886 IBIS 125 / 7739
13
 (HPO:0002949) Fused cervical vertebrae 2/5 [HPO] 2319886 IBIS 13 / 7739
14
 (HPO:0010055) Broad hallux hallmark [HPO] 56 / 7739
15
 (HPO:0011304) Broad thumb hallmark [HPO] 39 / 7739
16
 (OMIM) Prominent columella 4 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Hemicylindrical nose 2 / 7739
19
 (OMIM) Broad halluces 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Teunissen and Cremers (1990) reported a family with 5 males in 3 generations who were affected with what appeared to be a 'new' autosomal dominant syndrome. There were several instances of male-to-male transmission. All 5 patients had ankylosis ...
Molecular genetics OMIM Brown et al. (2002) identified truncating mutations in the NOG gene in 2 families with autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies but without symphalangism. The first family, of Italian descent, had ...