MULTIPLE SYNOSTOSES SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: SYMPHALANGISM-BRACHYDACTYLY SYNDROME
FACIOAUDIOSYMPHALANGISM SYNDROME
DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN
SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY
WL SYNDROME
SYNS1
Number of Symptoms 43
OrphanetNr:
OMIM Id: 186500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
2
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
3
 (HPO:0000275) Narrow face 76 / 7739
4
 (HPO:0005104) Hypoplastic nasal septum 3 / 7739
5
 (HPO:0000322) Short philtrum 130 / 7739
6
 (HPO:0000486) Strabismus 576 / 7739
7
 (HPO:0008607) Progressive conductive hearing impairment 2 / 7739
8
 (HPO:0000381) Stapes ankylosis 7 / 7739
9
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
10
 (HPO:0006187) Fusion of midphalangeal joints 2 / 7739
11
 (HPO:0000954) Single transverse palmar crease 162 / 7739
12
 (HPO:0002967) Cubitus valgus 49 / 7739
13
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
14
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
15
 (HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
16
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
17
 (HPO:0001773) Short foot 86 / 7739
18
 (HPO:0003083) Dislocated radial head 35 / 7739
19
 (HPO:0006385) Short lower limbs 8 / 7739
20
 (HPO:0100237) Proximal foot symphalangism 2 / 7739
21
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
22
 (HPO:0003416) Spinal canal stenosis 28 / 7739
23
 (HPO:0008460) Hypoplastic spinal processes 2 / 7739
24
 (HPO:0008368) Tarsal synostosis 21 / 7739
25
 (HPO:0100264) Proximal symphalangism 3 / 7739
26
 (HPO:0009702) Carpal synostosis 26 / 7739
27
 (HPO:0006152) Proximal symphalangism of hands 9 / 7739
28
 (HPO:0010109) Short hallux 27 / 7739
29
 (HPO:0001032) Absent distal interphalangeal creases 9 / 7739
30
 (HPO:0005807) Absent distal phalanges 4 / 7739
31
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
32
 (HPO:0005792) Short humerus 34 / 7739
33
 (HPO:0000879) Short sternum 16 / 7739
34
 (HPO:0000767) Pectus excavatum 244 / 7739
35
 (HPO:0010624) Aplastic/hypoplastic toenail 3 / 7739
36
 (OMIM) Limited forearm pronation and supination 3 / 7739
37
 (OMIM) Proximal symphalangism 2,3,4 1 / 7739
38
 (OMIM) Hemicylindrical nose 2 / 7739
39
 (MedDRA:10072883) Brachydactyly 153 / 7739
40
 (MedDRA:10058668) Clinodactyly 91 / 7739
41
 (OMIM) Anteriorly positioned shoulders 1 / 7739
42
 (OMIM) Aplastic/hypoplastic fingernails 2 / 7739
43
 (OMIM) Absence of skin creases over proximal interphalangeal (PIP) joints 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fuhrmann et al. (1966) described mother and son with bilateral dysplasia and synostosis of the elbow joint, synostoses in the fingers, wrist and foot, and short middle phalanges and metacarpals. The combination was described previously in father and ...
Molecular genetics OMIM In affected members of the large Hawaiian family with dominantly inherited multiple synostoses syndrome originally reported by Gaal et al. (1987), Gong et al. (1999) identified a heterozygous mutation (602991.0003) in the NOG gene. Furthermore, they demonstrated mutations ...