Brachydactyly-Distal Symphalangism Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRC096 MIFTS: 17	Brachydactyly-Distal Symphalangism Syndrome Categories: Bone diseases, Fetal diseases, Rare diseases
Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Brachydactyly-Distal Symphalangism Syndrome

MalaCards integrated aliases for Brachydactyly-Distal Symphalangism Syndrome:

Name: Brachydactyly-Distal Symphalangism Syndrome ⁵⁶ ⁵²

Sillence Syndrome ⁵² ⁵⁸ ⁷¹

Brachydactyly-Symphalangism Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

brachydactyly-distal symphalangism syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of limb(s)

Other specified congenital malformations of limb(s)

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 113450

MESH via Orphanet ⁴⁴ C537338

ICD10 via Orphanet ³³ Q74.8

UMLS via Orphanet ⁷² C0342282 C1862092

Orphanet ⁵⁸ ORPHA3168

MedGen ⁴¹ C1862092

SNOMED-CT via HPO ⁶⁸ 111266001 161891005 17790008 more

UMLS ⁷¹ C1862092

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Summaries for Brachydactyly-Distal Symphalangism Syndrome

NIH Rare Diseases : ⁵² 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 . Visit the Orphanet disease page for more resources.

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

More information from OMIM: 113450

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Related Diseases for Brachydactyly-Distal Symphalangism Syndrome

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Symptoms & Phenotypes for Brachydactyly-Distal Symphalangism Syndrome

Human phenotypes related to Brachydactyly-Distal Symphalangism Syndrome:

⁵⁸ ³¹ (show all 37)

#	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	flat acetabular roof ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003180
6	short middle phalanx of finger ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005819
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	platyspondyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000926
11	epicanthus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000286
12	large iliac wings ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008818
13	back pain ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003418
14	bulbous tips of toes ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001782
15	slender build ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001533
16	camptodactyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012385
17	broad metatarsal ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001783
18	oval face ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000300
19	intervertebral disc degeneration ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008419
20	large tarsal bones ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004679
21	chess-pawn distal phalanges ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006170
22	abnormal proximal phalanx morphology of the hand ³¹	occasional (7.5%)		HP:0009834
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	abnormality of the distal phalanx of finger ⁵⁸		Occasional (29-5%)
27	tall stature ³¹			HP:0000098
28	camptodactyly of finger ³¹			HP:0100490
29	short finger ⁵⁸		Occasional (29-5%)
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 phalanges of the hand ⁵⁸		Occasional (29-5%)
35	abnormality of the proximal phalanx of the hallux ⁵⁸		Occasional (29-5%)
36	distal symphalangism of hands ³¹			HP:0001204
37	type a1 brachydactyly ³¹			HP:0009371

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Feet:
pes cavus
'chess-pawn' distal phalanges
absent middle phalanges
broad feet

Skin Nails Hair Skin:
bilateral single transverse palmar creases

Growth Height:
normal to tall stature

Skeletal Hands:
bilateral single transverse palmar creases
camptodactyly
distal symphalangism
brachydactyly type a1
missing middle phalanges
more

Skeletal Spine:
thoracolumbar scoliosis

Skeletal Pelvis:
ovoid pelvis
broad iliac wing
horizontal acetabulae

Clinical features from OMIM:

113450

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Drugs & Therapeutics for Brachydactyly-Distal Symphalangism Syndrome

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

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Genetic Tests for Brachydactyly-Distal Symphalangism Syndrome

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Anatomical Context for Brachydactyly-Distal Symphalangism Syndrome

MalaCards organs/tissues related to Brachydactyly-Distal Symphalangism Syndrome:

⁴⁰

Bone

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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. ⁵⁶	Sillence DO	671485	1978

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Genes for Brachydactyly-Distal Symphalangism Syndrome

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Variations for Brachydactyly-Distal Symphalangism Syndrome

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Expression for Brachydactyly-Distal Symphalangism Syndrome

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

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Pathways for Brachydactyly-Distal Symphalangism Syndrome

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GO Terms for Brachydactyly-Distal Symphalangism Syndrome

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