MCID: BRC096
MIFTS: 17

Brachydactyly-Distal Symphalangism Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Brachydactyly-Distal Symphalangism Syndrome

MalaCards integrated aliases for Brachydactyly-Distal Symphalangism Syndrome:

Name: Brachydactyly-Distal Symphalangism Syndrome 57 20
Sillence Syndrome 20 58 70
Brachydactyly-Symphalangism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
sillence syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
brachydactyly-distal symphalangism syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 113450
MESH via Orphanet 45 C537338
ICD10 via Orphanet 33 Q74.8
UMLS via Orphanet 71 C0342282 C1862092
Orphanet 58 ORPHA3168
MedGen 41 C1862092
UMLS 70 C1862092

Summaries for Brachydactyly-Distal Symphalangism Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3168 Definition Sillence syndrome ( brachydactyly -symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. Epidemiology The syndrome has been described in one family with five affected individuals from three successive generations. Genetic counseling Transmission appears to be autosomal dominant.

MalaCards based summary : Brachydactyly-Distal Symphalangism Syndrome, is also known as sillence syndrome. Related phenotypes are brachydactyly and pes cavus

More information from OMIM: 113450

Related Diseases for Brachydactyly-Distal Symphalangism Syndrome

Symptoms & Phenotypes for Brachydactyly-Distal Symphalangism Syndrome

Human phenotypes related to Brachydactyly-Distal Symphalangism Syndrome:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
2 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 metatarsus adductus 58 31 frequent (33%) Frequent (79-30%) HP:0001840
5 short middle phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0005819
6 flat acetabular roof 58 31 frequent (33%) Frequent (79-30%) HP:0003180
7 aplasia of the middle phalanx of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0010239
8 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
9 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
10 large iliac wings 58 31 occasional (7.5%) Occasional (29-5%) HP:0008818
11 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
12 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
13 slender build 58 31 occasional (7.5%) Occasional (29-5%) HP:0001533
14 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
15 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
16 broad metatarsal 58 31 occasional (7.5%) Occasional (29-5%) HP:0001783
17 intervertebral disc degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0008419
18 oval face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000300
19 abnormal proximal phalanx morphology of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0009834
20 bulbous tips of toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001782
21 large tarsal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0004679
22 chess-pawn distal phalanges 58 31 occasional (7.5%) Occasional (29-5%) HP:0006170
23 abnormal morphology of the proximal phalanx of the hallux 31 occasional (7.5%) HP:0010052
24 abnormal vertebral morphology 58 Occasional (29-5%)
25 bilateral single transverse palmar creases 31 HP:0007598
26 abnormal distal phalanx morphology of finger 58 Occasional (29-5%)
27 tall stature 31 HP:0000098
28 short finger 58 Occasional (29-5%)
29 camptodactyly of finger 31 HP:0100490
30 short 1st metacarpal 31 HP:0010034
31 broad foot 31 HP:0001769
32 single transverse palmar crease 31 HP:0000954
33 thoracolumbar scoliosis 31 HP:0002944
34 abnormality of the proximal phalanx of the hallux 58 Occasional (29-5%)
35 distal symphalangism of hands 31 HP:0001204
36 type a1 brachydactyly 31 HP:0009371

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
bilateral single transverse palmar creases
camptodactyly
distal symphalangism
brachydactyly type a1
missing middle phalanges
more
Skeletal Feet:
pes cavus
'chess-pawn' distal phalanges
absent middle phalanges
broad feet

Growth Height:
normal to tall stature

Skin Nails Hair Skin:
bilateral single transverse palmar creases

Skeletal Spine:
thoracolumbar scoliosis

Skeletal Pelvis:
ovoid pelvis
broad iliac wing
horizontal acetabulae

Clinical features from OMIM®:

113450 (Updated 05-Apr-2021)

Drugs & Therapeutics for Brachydactyly-Distal Symphalangism Syndrome

Search Clinical Trials , NIH Clinical Center for Brachydactyly-Distal Symphalangism Syndrome

Genetic Tests for Brachydactyly-Distal Symphalangism Syndrome

Anatomical Context for Brachydactyly-Distal Symphalangism Syndrome

Publications for Brachydactyly-Distal Symphalangism Syndrome

Articles related to Brachydactyly-Distal Symphalangism Syndrome:

# Title Authors PMID Year
1
Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome. 57
671485 1978

Variations for Brachydactyly-Distal Symphalangism Syndrome

Expression for Brachydactyly-Distal Symphalangism Syndrome

Search GEO for disease gene expression data for Brachydactyly-Distal Symphalangism Syndrome.

Pathways for Brachydactyly-Distal Symphalangism Syndrome

GO Terms for Brachydactyly-Distal Symphalangism Syndrome

Sources for Brachydactyly-Distal Symphalangism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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