Multiple synostoses syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Symphalangism - brachydactyly
Facio-audio-symphalangism
WL syndrome
Deafness - symphalangism syndrome, Hermann type
Number of Symptoms 47
OrphanetNr: 3237
OMIM Id: 186500
610017
612961
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 20 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with synostosis or other joint formation defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
2
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
3
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
4
 (HPO:0005104) Hypoplastic nasal septum 3 / 7739
5
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
6
 (HPO:0000322) Short philtrum 130 / 7739
7
 (HPO:0000275) Narrow face 76 / 7739
8
 (HPO:0000486) Strabismus 576 / 7739
9
 (HPO:0000381) Stapes ankylosis 7 / 7739
10
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
11
 (HPO:0008607) Progressive conductive hearing impairment 2 / 7739
12
 (HPO:0002515) Waddling gait 56 / 7739
13
 (HPO:0003416) Spinal canal stenosis 28 / 7739
14
 (HPO:0005792) Short humerus 34 / 7739
15
 (HPO:0000879) Short sternum 16 / 7739
16
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
17
 (HPO:0006187) Fusion of midphalangeal joints 2 / 7739
18
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
19
 (HPO:0001773) Short foot 86 / 7739
20
 (HPO:0009816) Lower limb undergrowth 6 / 7739
21
 (HPO:0002967) Cubitus valgus 49 / 7739
22
 (HPO:0000767) Pectus excavatum 244 / 7739
23
 (HPO:0008368) Tarsal synostosis 21 / 7739
24
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
25
 (HPO:0009702) Carpal synostosis 26 / 7739
26
 (HPO:0009466) Radial deviation of finger 101 / 7739
27
 (HPO:0005807) Absent distal phalanges 4 / 7739
28
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
29
 (HPO:0008460) Hypoplastic spinal processes 2 / 7739
30
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
31
 (HPO:0010109) Short hallux 27 / 7739
32
 (HPO:0006385) Short lower limbs 8 / 7739
33
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
34
 (HPO:0003083) Dislocated radial head 35 / 7739
35
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
36
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
37
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
38
 (HPO:0001032) Absent distal interphalangeal creases 9 / 7739
39
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
40
 (HPO:0006152) Proximal symphalangism of hands 9 / 7739
41
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
42
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
43
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
44
 (HPO:0010624) Aplastic/hypoplastic toenail 3 / 7739
45
 (HPO:0001798) Anonychia 28 / 7739
46
 (HPO:0030084) Clinodactyly 90 / 7739
47
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: