MCID: FBL008
MIFTS: 48

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

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 53
Fuhrmann Syndrome 57 12 53 59 75 37 29 13 6 15 40 73
Bowing of the Femurs, Aplasia or Hypoplasia of the Fibula, and Digital Anomalies 53
Fibular Hypoplasia or Aplasia-Femoral Bowing-Oligodactyly Syndrome 59
Hypoplasia Femoral Bowing and Poly- Syn- and Oligodactyly 75
Fuhrmann-Rieger-De Sousa Syndrome 59
Fibular Aplasia 75
Fuhrs 75

Characteristics:

Orphanet epidemiological data:

59
fuhrmann syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 228930
Disease Ontology 12 DOID:0090067
ICD10 33 Q74.8
Orphanet 59 ORPHA2854
MESH via Orphanet 45 C538189
UMLS via Orphanet 74 C1856728
ICD10 via Orphanet 34 Q74.8
MedGen 42 C1856728
KEGG 37 H00846
UMLS 73 C1856728

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

NIH Rare Diseases : 53 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 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome and fibular aplasia ectrodactyly. 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 Gastric cancer and Pathways in cancer. Affiliated tissues include bone, testes and uterus, and related phenotypes are amenorrhea and postaxial hand polydactyly

UniProtKB/Swiss-Prot : 75 Fuhrmann syndrome: Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.

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

Description 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 26)
# Related Disease Score Top Affiliating Genes
1 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 12.5
2 fibular aplasia ectrodactyly 12.3
3 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 12.1
4 craniosynostosis with fibular aplasia 12.1
5 orofaciodigital syndrome x 11.7
6 ulna and fibula, absence of, with severe limb deficiency 11.4
7 mesomelic dysplasia, savarirayan type 11.2
8 fibular hypoplasia and complex brachydactyly 11.0
9 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.5 EDAR EDARADD
10 extratemporal epilepsy 10.2 EDAR WNT10A
11 hypohidrotic ectodermal dysplasia autosomal recessive 10.1 EDAR EDARADD WNT10A
12 clouston syndrome 10.1 EDAR EDARADD WNT10A
13 hypohidrosis 10.1 EDAR EDARADD MSX1
14 hypotrichosis 10.0 EDAR EDARADD WNT10A
15 phocomelia 9.9
16 orofaciodigital syndrome 9.8
17 47, xxy 9.8
18 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 MSX1 SHH
19 ectodermal dysplasia 9.8 EDAR EDARADD IKBKG
20 tooth size 9.8 MSX1 PAX9 SHH
21 orofacial cleft 9.6 MSX1 PAX9 SHH
22 agnathia-otocephaly complex 9.5 MSX1 SHH
23 miles-carpenter syndrome 9.2 CA2 SHH
24 anodontia 9.1 AXIN2 EDAR EDARADD MSX1 PAX9
25 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 8.6 EDAR EDARADD IKBKG MSX1 PAX9 WNT10A
26 tooth agenesis 8.3 AXIN2 EDAR EDARADD GREM2 MSX1 PAX9

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-,...

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Pelvis:
congenital hip dislocation
hypoplastic iliac wings

Endocrine Features:
amenorrhea

Skin Nails Hair Skin:
hypoplastic flexion creases dorsum of hand

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

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

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

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 amenorrhea 32 HP:0000141
2 postaxial hand polydactyly 32 frequent (33%) HP:0001162
3 hand oligodactyly 32 frequent (33%) HP:0001180
4 congenital hip dislocation 32 frequent (33%) HP:0001374
5 talipes equinovarus 32 frequent (33%) HP:0001762
6 toe syndactyly 32 frequent (33%) HP:0001770
7 absent toenail 32 HP:0001802
8 foot oligodactyly 32 frequent (33%) HP:0001849
9 aplasia/hypoplasia of metatarsal bones 32 frequent (33%) HP:0001964
10 hypoplastic iliac wing 32 frequent (33%) HP:0002866
11 femoral bowing 32 hallmark (90%) HP:0002980
12 hypoplasia of the radius 32 hallmark (90%) HP:0002984
13 radial bowing 32 hallmark (90%) HP:0002986
14 fibular aplasia 32 HP:0002990
15 short stature 32 frequent (33%) HP:0004322
16 aplasia/hypoplasia of the femur 32 frequent (33%) HP:0005613
17 aplasia/hypoplasia involving the metacarpal bones 32 frequent (33%) HP:0005914
18 finger syndactyly 32 occasional (7.5%) HP:0006101
19 abnormal finger flexion creases 32 frequent (33%) HP:0006143
20 aplasia/hypoplasia of the 5th finger 32 frequent (33%) HP:0006262
21 patellar aplasia 32 frequent (33%) HP:0006443
22 aplasia/hypoplasia of the fibula 32 hallmark (90%) HP:0006492
23 aplasia/hypoplasia of the ulna 32 hallmark (90%) HP:0006495
24 hypoplastic pelvis 32 frequent (33%) HP:0008839
25 ulnar deviation of finger 32 frequent (33%) HP:0009465
26 aplasia/hypoplasia of the phalanges of the hand 32 HP:0009767
27 clinodactyly 32 HP:0030084

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

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.26 AXIN2 CA2 EDAR EDARADD GREM2 IKBKG
2 behavior/neurological MP:0005386 10.2 TFAP2B WNT10A WNT7A EDARADD GREM2 IKBKG
3 endocrine/exocrine gland MP:0005379 10.19 EDARADD IKBKG MSX1 PAX9 SHH WNT10A
4 craniofacial MP:0005382 10.18 PAX9 SHH WNT10A AXIN2 EDAR EDARADD
5 digestive/alimentary MP:0005381 10.11 CA2 EDAR IKBKG KRT17 MSX1 PAX9
6 mortality/aging MP:0010768 10.11 AXIN2 CA2 EDAR EDARADD IKBKG KRT17
7 integument MP:0010771 10.09 EDAR EDARADD IKBKG KRT17 MSX1 SHH
8 cardiovascular system MP:0005385 10.08 AXIN2 EDAR IKBKG MSX1 SHH TFAP2B
9 limbs/digits/tail MP:0005371 10.06 AXIN2 EDAR EDARADD MSX1 PAX9 SHH
10 reproductive system MP:0005389 9.86 AXIN2 CA2 EDAR EDARADD IKBKG PAX9
11 hearing/vestibular/ear MP:0005377 9.85 SHH WNT7A EDARADD MSX1 PAX9
12 skeleton MP:0005390 9.65 AXIN2 CA2 EDAR EDARADD GREM2 MSX1
13 respiratory system MP:0005388 9.63 CA2 EDARADD MSX1 PAX9 SHH TFAP2B
14 pigmentation MP:0001186 9.62 EDAR EDARADD IKBKG KRT17
15 vision/eye MP:0005391 9.23 MSX1 SHH TFAP2B WNT7A AXIN2 EDAR

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

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:

41
Bone, Testes, 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:

# Title Authors Year
1
A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome. ( 24839142 )
2014
2
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. ( 23266637 )
2013
3
Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome. ( 23922166 )
2013
4
Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations. ( 21716096 )
2011
5
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. ( 16826533 )
2006
6
Fuhrmann syndrome: two Brazilian cases. ( 12868468 )
2003
7
Fuhrmann syndrome associated with cortical dysplasia. ( 11332978 )
2001
8
Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. ( 1785629 )
1991

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

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

75
# Symbol AA change Variation ID SNP ID
1 WNT7A p.Ala109Thr VAR_030673 rs104893832

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT7A NM_004625.3(WNT7A): c.325G> A (p.Ala109Thr) single nucleotide variant Pathogenic rs104893832 GRCh37 Chromosome 3, 13896274: 13896274
2 WNT7A NM_004625.3(WNT7A): c.325G> A (p.Ala109Thr) single nucleotide variant Pathogenic rs104893832 GRCh38 Chromosome 3, 13854777: 13854777

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-,...

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

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.93 MSX1 SHH TFAP2B WNT7A
2 positive regulation of gene expression GO:0010628 9.9 EDAR SHH WNT10A WNT7A
3 Wnt signaling pathway GO:0016055 9.81 AXIN2 WNT10A WNT7A
4 kidney development GO:0001822 9.76 CA2 SHH TFAP2B
5 canonical Wnt signaling pathway GO:0060070 9.75 SHH WNT10A WNT7A
6 roof of mouth development GO:0060021 9.73 MSX1 SHH WNT7A
7 cell fate commitment GO:0045165 9.72 SHH WNT10A WNT7A
8 embryonic digit morphogenesis GO:0042733 9.71 MSX1 SHH WNT7A
9 embryonic limb morphogenesis GO:0030326 9.7 MSX1 SHH WNT7A
10 dorsal/ventral pattern formation GO:0009953 9.65 SHH WNT7A
11 limb development GO:0060173 9.64 SHH WNT7A
12 midbrain development GO:0030901 9.63 MSX1 SHH
13 skin development GO:0043588 9.63 SHH TFAP2B WNT10A
14 establishment of cell polarity GO:0030010 9.62 SHH WNT7A
15 protein localization to nucleus GO:0034504 9.62 MSX1 SHH
16 anatomical structure development GO:0048856 9.61 SHH TFAP2B
17 face morphogenesis GO:0060325 9.61 MSX1 PAX9
18 hair follicle development GO:0001942 9.61 EDAR SHH WNT10A
19 multicellular organism development GO:0007275 9.61 AXIN2 EDAR EDARADD GREM2 MSX1 PAX9
20 intermediate filament organization GO:0045109 9.59 KRT17 SHH
21 embryonic forelimb morphogenesis GO:0035115 9.58 MSX1 SHH WNT7A
22 odontogenesis of dentin-containing tooth GO:0042475 9.56 CA2 EDAR MSX1 SHH
23 embryonic hindlimb morphogenesis GO:0035116 9.54 MSX1 SHH WNT7A
24 salivary gland cavitation GO:0060662 9.51 EDAR SHH
25 hair follicle morphogenesis GO:0031069 9.5 KRT17 SHH WNT10A
26 mesenchymal cell proliferation GO:0010463 9.49 MSX1 SHH
27 stem cell development GO:0048864 9.48 SHH WNT7A
28 regulation of odontogenesis GO:0042481 9.33 MSX1 PAX9 SHH
29 odontogenesis GO:0042476 9.02 AXIN2 MSX1 PAX9 SHH WNT10A
30 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 IKBKG MSX1 PAX9 SHH TFAP2B WNT7A

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 frizzled binding GO:0005109 8.96 WNT10A WNT7A
2 receptor ligand activity GO:0048018 8.62 WNT10A WNT7A

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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