MCID: BRC096
MIFTS: 18

Brachydactyly-Distal Symphalangism Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Brachydactyly-Distal Symphalangism Syndrome

MalaCards integrated aliases for Brachydactyly-Distal Symphalangism Syndrome:

Name: Brachydactyly-Distal Symphalangism Syndrome 57 19
Sillence Syndrome 19 58 71
Brachydactyly-Symphalangism Syndrome 58

Characteristics:


Inheritance:

Brachydactyly-Distal Symphalangism Syndrome: Autosomal dominant 57
Sillence Syndrome: Autosomal dominant 58

Prevelance:

Sillence Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Sillence Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 113450
MESH via Orphanet 44 C537338
ICD10 via Orphanet 32 Q74.8
UMLS via Orphanet 72 C0342282 C1862092
Orphanet 58 ORPHA3168
MedGen 40 C1862092
UMLS 71 C1862092

Summaries for Brachydactyly-Distal Symphalangism Syndrome

GARD: 19 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.

MalaCards based summary: Brachydactyly-Distal Symphalangism Syndrome, is also known as sillence syndrome. Affiliated tissues include bone, and related phenotypes are brachydactyly and pes cavus

Orphanet: 58 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.

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 30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
2 pes cavus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001761
3 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
4 metatarsus adductus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001840
5 short middle phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0005819
6 flat acetabular roof 58 30 Frequent (33%) Frequent (79-30%)
HP:0003180
7 aplasia of the middle phalanx of the hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0010239
8 broad thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011304
9 abnormality of the nail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001597
10 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
11 back pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003418
12 slender build 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001533
13 platyspondyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000926
14 camptodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012385
15 broad metatarsal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001783
16 intervertebral disc degeneration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008419
17 oval face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000300
18 abnormal proximal phalanx morphology of the hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009834
19 bulbous tips of toes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001782
20 large tarsal bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004679
21 chess-pawn distal phalanges 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006170
22 large iliac wing 30 Occasional (7.5%) HP:0008818
23 abnormal morphology of the proximal phalanx of the hallux 30 Occasional (7.5%) HP:0010052
24 abnormal vertebral morphology 58 Occasional (29-5%)
25 large iliac wings 58 Occasional (29-5%)
26 bilateral single transverse palmar creases 30 HP:0007598
27 abnormal distal phalanx morphology of finger 58 Occasional (29-5%)
28 tall stature 30 HP:0000098
29 short finger 58 Occasional (29-5%)
30 camptodactyly of finger 30 HP:0100490
31 short 1st metacarpal 30 HP:0010034
32 broad foot 30 HP:0001769
33 single transverse palmar crease 30 HP:0000954
34 thoracolumbar scoliosis 30 HP:0002944
35 abnormality of the proximal phalanx of the hallux 58 Occasional (29-5%)
36 distal symphalangism of hands 30 HP:0001204
37 type a1 brachydactyly 30 HP:0009371

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

Organs/tissues related to Brachydactyly-Distal Symphalangism Syndrome:

MalaCards : Bone

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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