SHFLD
MCID: SPL027
MIFTS: 24

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

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 58 13
Split-Hand/foot Malformation with Long Bone Deficiency 58 54
Tibial Aplasia with Split-Hand/split-Foot Deformity 58 54
Ectrodactyly with Aplasia of Long Bones 58 54
Aplasia of Tibia with Ectrodactyly 58 54
Shfld 58 54
Split-Hand/foot Malformation with Long Bone Deficiency; Shfld 58
Split-Hand-Foot Malformation with Long Bone Deficiency 1 74
Cleft Hand and Absent Tibia 58
Cleft Hand Absent Tibia 54
Shfld1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
split-hand/foot malformation with long bone deficiency 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 119100
MedGen 43 C1861553
SNOMED-CT via HPO 70 205358006 263681008 299034005
UMLS 74 C1861553

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3329Disease definitionTibial 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 susceptibilityloci 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

Description from OMIM: 119100

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

Diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation with long bone deficiency 2 12.8
2 chromosome 17p13.3, telomeric, duplication syndrome 12.5
3 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 11.2
4 split hand-foot malformation 10.4
5 tibial aplasia-ectrodactyly syndrome 10.4
6 tibial hemimelia 10.2
7 split-hand/foot malformation 1 10.1
8 isolated split hand-split foot malformation 10.1
9 thrombocytopenia 10.1

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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 split hand 33 HP:0001171
2 short hallux 33 HP:0010109
3 cupped ear 33 HP:0000378
4 aplasia/hypoplasia of the ulna 33 HP:0006495
5 patellar aplasia 33 HP:0006443
6 split foot 33 HP:0001839
7 absent tibia 33 HP:0009556
8 absent forearm 33 HP:0005632
9 hand monodactyly 33 HP:0004058
10 aplasia of the 3rd finger 33 HP:0009460

Symptoms via clinical synopsis from OMIM:

58
Radiology:
patellar aplasia
distal hypoplasia or bifurcation of the femurs
ulnar hypoplasia/aplasia

Ears:
cup-shaped ears

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

42
Bone

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

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

# Title Authors Year
1
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. ( 29970136 )
2018
2
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. ( 28496997 )
2017
3
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ( 23790188 )
2013
4
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. ( 23202277 )
2013
5
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. ( 17160898 )
2007
6
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. ( 17569090 )
2007

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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