SHFLD1
MCID: SPL027
MIFTS: 22

Split-Hand/foot Malformation with Long Bone Deficiency 1 (SHFLD1)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Split-Hand/foot Malformation with Long Bone Deficiency 1

MalaCards integrated aliases for Split-Hand/foot Malformation with Long Bone Deficiency 1:

Name: Split-Hand/foot Malformation with Long Bone Deficiency 1 57 13
Split-Hand/foot Malformation with Long Bone Deficiency 57 53
Tibial Aplasia with Split-Hand/split-Foot Deformity 57 53
Ectrodactyly with Aplasia of Long Bones 57 53
Aplasia of Tibia with Ectrodactyly 57 53
Shfld 57 53
Split-Hand/foot Malformation with Long Bone Deficiency; Shfld 57
Split-Hand-Foot Malformation with Long Bone Deficiency 1 72
Cleft Hand and Absent Tibia 57
Cleft Hand Absent Tibia 53
Shfld1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
split-hand/foot malformation with long bone deficiency 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 119100
MedGen 42 C1861553
UMLS 72 C1861553

Summaries for Split-Hand/foot Malformation with Long Bone Deficiency 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3329DefinitionTibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.EpidemiologyThe incidence is estimated to be approximately 1 in 1,000,000 live births.Clinical descriptionThe expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.EtiologyTwo susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified, leading to the hypothesis that this syndrome fits the model of digenic inheritance.Differential diagnosisOverlap with the Gollop-Wolfgang syndrome (see this term) has been described.Genetic counselingThe syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families.Visit the Orphanet disease page for more resources.

MalaCards based summary : Split-Hand/foot Malformation with Long Bone Deficiency 1, also known as split-hand/foot malformation with long bone deficiency, is related to split-hand/foot malformation with long bone deficiency 2 and chromosome 17p13.3, telomeric, duplication syndrome. An important gene associated with Split-Hand/foot Malformation with Long Bone Deficiency 1 is SHFL1 (Split-Hand/Foot Malformation With Long Bone Deficiency 1). Affiliated tissues include bone, and related phenotypes are split hand and short hallux

More information from OMIM: 119100

Related Diseases for Split-Hand/foot Malformation with Long Bone Deficiency 1

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 1:



Diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 1

Symptoms & Phenotypes for Split-Hand/foot Malformation with Long Bone Deficiency 1

Human phenotypes related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 split hand 32 HP:0001171
2 short hallux 32 HP:0010109
3 cupped ear 32 HP:0000378
4 aplasia/hypoplasia of the ulna 32 HP:0006495
5 patellar aplasia 32 HP:0006443
6 split foot 32 HP:0001839
7 absent tibia 32 HP:0009556
8 hand monodactyly 32 HP:0004058
9 absent forearm 32 HP:0005632
10 aplasia of the 3rd finger 32 HP:0009460

Symptoms via clinical synopsis from OMIM:

57
Radiology:
patellar aplasia
distal hypoplasia or bifurcation of the femurs
ulnar hypoplasia/aplasia

Ears:
cup-shaped ears

Limbs:
absent tibia
absent forearm
cleft hand
absent middle finger
flexed ring finger
more

Clinical features from OMIM:

119100

Drugs & Therapeutics for Split-Hand/foot Malformation with Long Bone Deficiency 1

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation with Long Bone Deficiency 1

Genetic Tests for Split-Hand/foot Malformation with Long Bone Deficiency 1

Anatomical Context for Split-Hand/foot Malformation with Long Bone Deficiency 1

MalaCards organs/tissues related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

41
Bone

Publications for Split-Hand/foot Malformation with Long Bone Deficiency 1

Articles related to Split-Hand/foot Malformation with Long Bone Deficiency 1:

(show all 19)
# Title Authors PMID Year
1
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. 38 8
17569090 2007
2
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. 38 8
17160898 2007
3
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. 8
16688753 2006
4
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. 8
11754046 2001
5
Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types? 8
8723107 1996
6
On the inheritance of the split hand/split foot malformation. 8
7802032 1994
7
Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1. 8
7987314 1994
8
Bilateral split-hand with bilateral tibial aplasia. 8
2748235 1989
9
Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. 8
3655984 1987
10
Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. 8
4007857 1985
11
The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency. 38
31307755 2019
12
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. 38
31200655 2019
13
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype. 38
29970136 2018
14
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. 38
28496997 2017
15
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. 38
24838992 2014
16
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. 38
24874887 2014
17
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. 38
23790188 2014
18
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. 38
23202277 2013
19
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). 38
21629300 2011

Variations for Split-Hand/foot Malformation with Long Bone Deficiency 1

Expression for Split-Hand/foot Malformation with Long Bone Deficiency 1

Search GEO for disease gene expression data for Split-Hand/foot Malformation with Long Bone Deficiency 1.

Pathways for Split-Hand/foot Malformation with Long Bone Deficiency 1

GO Terms for Split-Hand/foot Malformation with Long Bone Deficiency 1

Sources for Split-Hand/foot Malformation with Long Bone Deficiency 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....