FUHRS
MCID: FBL008
MIFTS: 43

Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly (FUHRS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

MalaCards integrated aliases for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

Name: Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 57 20
Fuhrmann Syndrome 57 12 20 58 72 36 29 13 6 44 15 39 70
Bowing of the Femurs, Aplasia or Hypoplasia of the Fibula, and Digital Anomalies 20
Fibular Hypoplasia or Aplasia-Femoral Bowing-Oligodactyly Syndrome 58
Hypoplasia Femoral Bowing and Poly- Syn- and Oligodactyly 72
Fuhrmann-Rieger-De Sousa Syndrome 58
Fibular Aplasia 72
Fuhrs 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

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

Miscellaneous:
allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome )


HPO:

31
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0090067
OMIM® 57 228930
KEGG 36 H00846
MeSH 44 C538189
ICD10 32 Q74.8
MESH via Orphanet 45 C538189
ICD10 via Orphanet 33 Q74.8
UMLS via Orphanet 71 C1856728
Orphanet 58 ORPHA2854
MedGen 41 C1856728
UMLS 70 C1856728

Summaries for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

GARD : 20 Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal ( polydactyly ) or fewer fingers or toes than normal (oligodactyly). Fuhrmann syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Fuhrmann syndrome depends on the specific symptoms of each affected person, but may include surgical options.

MalaCards based summary : Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly, also known as fuhrmann syndrome, is related to du pan syndrome and chromosome 2q35 duplication syndrome. An important gene associated with Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly is WNT7A (Wnt Family Member 7A), and among its related pathways/superpathways are Signaling by Wnt and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include brain and uterus, and related phenotypes are hypoplasia of the radius and aplasia/hypoplasia of the ulna

Disease Ontology : 12 A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has material basis in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.

KEGG : 36 Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly.

UniProtKB/Swiss-Prot : 72 Fuhrmann syndrome: Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.

More information from OMIM: 228930

Related Diseases for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Diseases related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 du pan syndrome 31.6 WNT7A GDF5
2 chromosome 2q35 duplication syndrome 29.4 PORCN LMBR1 GDF5
3 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 11.7
4 orofaciodigital syndrome x 11.5
5 ulna and fibula, absence of, with severe limb deficiency 11.4
6 mesomelic dysplasia, savarirayan type 11.3
7 craniosynostosis with fibular aplasia 11.3
8 tibia, hypoplasia or aplasia of, with polydactyly 10.1 WNT7A LMBR1
9 skeletal dysplasias 10.1
10 cleft palate, isolated 10.1
11 amelia 10.1 WNT7A WNT3
12 schopf-schulz-passarge syndrome 10.0 WNT10A EDARADD
13 split-hand/foot malformation 1 10.0
14 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 10.0
15 inguinal hernia 10.0
16 hypospadias 10.0
17 dwarfism 10.0
18 phocomelia 10.0
19 isolated split hand-split foot malformation 10.0
20 synostoses, tarsal, carpal, and digital 9.9 GREM2 GDF5
21 hypohidrotic ectodermal dysplasia autosomal recessive 9.9 WNT10A EDARADD
22 anodontia 9.9 WNT10A GREM2 EDARADD
23 nievergelt syndrome 9.9
24 split hand-foot malformation 9.9
25 orofaciodigital syndrome 9.9
26 cleft lip 9.9
27 fibular hemimelia 9.9
28 cleft lip/palate 9.9
29 hemimelia 9.9
30 tibial aplasia-ectrodactyly syndrome 9.9
31 ectodermal dysplasia 1, hypohidrotic, x-linked 9.8 WNT10A EDARADD
32 ectodermal dysplasia 9.8 WNT10A GREM2 EDARADD
33 norrie disease 9.7 WNT7A WNT3 WNT10A GREM2
34 synostosis 9.7 SALL4 LMBR1 GDF5
35 focal dermal hypoplasia 9.7 WNT7A WNT3 WNT10A PORCN
36 exudative vitreoretinopathy 9.7 WNT7A WNT3 WNT10A PORCN
37 tooth agenesis 9.3 WNT7A WNT3 WNT10A PORCN GREM2 EDARADD

Graphical network of the top 20 diseases related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:



Diseases related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly

Symptoms & Phenotypes for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Human phenotypes related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the radius 31 hallmark (90%) HP:0002984
2 aplasia/hypoplasia of the ulna 31 hallmark (90%) HP:0006495
3 femoral bowing 31 hallmark (90%) HP:0002980
4 radial bowing 31 hallmark (90%) HP:0002986
5 aplasia/hypoplasia of the fibula 31 hallmark (90%) HP:0006492
6 short stature 31 frequent (33%) HP:0004322
7 congenital hip dislocation 31 frequent (33%) HP:0001374
8 talipes equinovarus 31 frequent (33%) HP:0001762
9 ulnar deviation of finger 31 frequent (33%) HP:0009465
10 toe syndactyly 31 frequent (33%) HP:0001770
11 postaxial hand polydactyly 31 frequent (33%) HP:0001162
12 aplasia/hypoplasia involving the metacarpal bones 31 frequent (33%) HP:0005914
13 hand oligodactyly 31 frequent (33%) HP:0001180
14 patellar aplasia 31 frequent (33%) HP:0006443
15 foot oligodactyly 31 frequent (33%) HP:0001849
16 hypoplastic iliac wing 31 frequent (33%) HP:0002866
17 hypoplastic pelvis 31 frequent (33%) HP:0008839
18 aplasia/hypoplasia of the femur 31 frequent (33%) HP:0005613
19 abnormal finger flexion creases 31 frequent (33%) HP:0006143
20 aplasia/hypoplasia of metatarsal bones 31 frequent (33%) HP:0001964
21 aplasia/hypoplasia of the 5th finger 31 frequent (33%) HP:0006262
22 finger syndactyly 31 occasional (7.5%) HP:0006101
23 fibular aplasia 31 HP:0002990
24 absent toenail 31 HP:0001802
25 aplasia/hypoplasia of the phalanges of the hand 31 HP:0009767
26 amenorrhea 31 HP:0000141
27 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skeletal Feet:
talipes equinovarus
oligodactyly
syndactyly
aplastic/hypoplastic phalanges
aplastic/hypoplastic metatarsals

Endocrine Features:
amenorrhea

Skin Nails Hair Skin:
hypoplastic flexion creases dorsum of hand

Skeletal Pelvis:
congenital hip dislocation
hypoplastic iliac wings

Skeletal Limbs:
femoral bowing
short bowed radii
forearm bowing
hypoplastic/aplastic ulnae
hypoplastic/aplastic femora
more
Skeletal Hands:
syndactyly
postaxial polydactyly
clinodactyly (4th and 5th fingers)
hypoplastic metacarpals (4th and 5th)

Skin Nails Hair Nails:
absent/hypoplastic finger nails (thumb most severely affected)
absent toenails

Clinical features from OMIM®:

228930 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 ADGRA2 EDARADD GDF5 GREM2 LMBR1 PORCN
2 craniofacial MP:0005382 9.85 ADGRA2 EDARADD GREM2 PORCN SALL4 WNT10A
3 embryo MP:0005380 9.8 ADGRA2 GDF5 PORCN SALL4 WNT3 WNT7A
4 limbs/digits/tail MP:0005371 9.76 EDARADD GDF5 LMBR1 PORCN SALL4 WNT10A
5 mortality/aging MP:0010768 9.61 ADGRA2 EDARADD GDF5 GREM2 LMBR1 PORCN
6 skeleton MP:0005390 9.23 EDARADD GDF5 GREM2 LMBR1 PORCN SALL4

Drugs & Therapeutics for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Search Clinical Trials , NIH Clinical Center for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly

Cochrane evidence based reviews: fuhrmann syndrome

Genetic Tests for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Genetic tests related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

# Genetic test Affiliating Genes
1 Fuhrmann Syndrome 29 WNT7A

Anatomical Context for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

MalaCards organs/tissues related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

40
Brain, Uterus

Publications for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Articles related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

(show all 19)
# Title Authors PMID Year
1
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. 61 6 57
16826533 2006
2
Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild. 6 57
9128926 1997
3
Fuhrmann syndrome: two Brazilian cases. 61 57
12868468 2003
4
Fuhrmann syndrome associated with cortical dysplasia. 61 57
11332978 2001
5
Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. 61 57
1785629 1991
6
Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome. 20 61
23922166 2013
7
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. 20 61
23266637 2013
8
In memorium Walter Fuhrmann. 57
9098479 1997
9
Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome. 57
3400735 1988
10
Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome. 57
7363910 1980
11
Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. 61
28917830 2017
12
A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome. 61
24839142 2014
13
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. 61
21965580 2012
14
Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations. 61
21716096 2011
15
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. 61
21344627 2011
16
Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis. 61
19530188 2009
17
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. 61
19012338 2008
18
Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet. 61
14564221 2003
19
[Individual cement-free total hip endoprosthesis in a patient with a rare form of dwarfism (Fuhrmann syndrome)]. 61
10929615 2000

Variations for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

ClinVar genetic disease variations for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT7A NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr) SNV Pathogenic 8061 rs104893832 GRCh37: 3:13896274-13896274
GRCh38: 3:13854777-13854777

UniProtKB/Swiss-Prot genetic disease variations for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:

72
# Symbol AA change Variation ID SNP ID
1 WNT7A p.Ala109Thr VAR_030673 rs104893832

Expression for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Search GEO for disease gene expression data for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly.

Pathways for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Pathways related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 WNT7A WNT3 WNT10A RSPO4 PORCN
2
Show member pathways
12.17 WNT7A WNT3 WNT10A
3 12.13 WNT7A WNT3 WNT10A
4
Show member pathways
12.11 WNT7A WNT3 WNT10A
5
Show member pathways
12.09 WNT7A WNT3 WNT10A RSPO4
6
Show member pathways
12.02 WNT7A WNT3 WNT10A
7 12 WNT7A WNT3 WNT10A
8
Show member pathways
11.9 WNT7A WNT3 WNT10A
9 11.85 WNT7A WNT3 WNT10A
10 11.76 WNT7A WNT3 WNT10A
11 11.73 WNT7A WNT3 WNT10A
12 11.65 WNT7A WNT3 WNT10A GDF5
13 11.6 WNT7A WNT3 WNT10A
14 11.24 WNT7A WNT3 WNT10A RSPO4 PORCN
15
Show member pathways
11 WNT7A WNT3 WNT10A PORCN
16 10.94 WNT7A WNT3

GO Terms for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

Cellular components related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 WNT7A WNT3 WNT10A RSPO4 GREM2 GDF5
2 endocytic vesicle membrane GO:0030666 9.16 WNT7A WNT3
3 Wnt signalosome GO:1990909 8.62 WNT3 ADGRA2

Biological processes related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.77 WNT7A WNT3 WNT10A GREM2 EDARADD
2 positive regulation of endothelial cell migration GO:0010595 9.54 WNT7A ADGRA2
3 somatic stem cell population maintenance GO:0035019 9.52 WNT7A SALL4
4 cellular response to transforming growth factor beta stimulus GO:0071560 9.51 WNT7A WNT10A
5 neuron differentiation GO:0030182 9.5 WNT7A WNT3 WNT10A
6 embryonic digit morphogenesis GO:0042733 9.49 WNT7A LMBR1
7 limb development GO:0060173 9.48 WNT7A WNT3
8 positive regulation of Wnt signaling pathway GO:0030177 9.46 WNT3 RSPO4
9 embryonic forelimb morphogenesis GO:0035115 9.43 WNT7A WNT3
10 cell fate commitment GO:0045165 9.43 WNT7A WNT3 WNT10A
11 embryonic hindlimb morphogenesis GO:0035116 9.4 WNT7A WNT3
12 embryonic limb morphogenesis GO:0030326 9.33 WNT7A SALL4 GDF5
13 canonical Wnt signaling pathway GO:0060070 9.26 WNT7A WNT3 WNT10A PORCN
14 Wnt signaling pathway GO:0016055 9.1 WNT7A WNT3 WNT10A RSPO4 PORCN ADGRA2

Molecular functions related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.62 WNT7A WNT3 WNT10A GDF5
2 cytokine activity GO:0005125 9.35 WNT7A WNT3 WNT10A GREM2 GDF5
3 frizzled binding GO:0005109 9.33 WNT7A WNT3 WNT10A
4 BMP binding GO:0036122 9.26 GREM2 GDF5
5 receptor ligand activity GO:0048018 8.92 WNT7A WNT3 WNT10A GREM2

Sources for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...

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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