Fuhrmann syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FUHRMANN SYNDROME
Fuhrmann-Rieger-de Sousa syndrome
Fibular hypoplasia or aplasia - femoral bowing - oligodactyly
Number of Symptoms 57
OrphanetNr: 2854
OMIM Id: 228930
ICD-10: Q74.8
UMLs: C1856728
MeSH: C538189
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000141) Amenorrhea 16 / 7739
2
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
3
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
4
 (HPO:0002866) Hypoplastic iliac wing common [HPO] 9128926 IBIS 34 / 7739
5
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] frequent [HPO] 9128926 IBIS 309 / 7739
6
 (HPO:0001770) Toe syndactyly frequent [HPO] 9128926 IBIS 149 / 7739
7
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
8
 (HPO:0001374) Congenital hip dislocation common [HPO] 9128926 IBIS 51 / 7739
9
 (HPO:0002986) Radial bowing hallmark [HPO] 16826533 IBIS 27 / 7739
10
 (HPO:0006262) Aplasia/Hypoplasia of the 5th finger common [HPO] 16826533 IBIS 1 / 7739
11
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
12
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] occasional [HPO] 9128926 IBIS 198 / 7739
13
 (HPO:0012165) Oligodactyly 18 / 7739
14
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
15
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
16
 (HPO:0002990) Fibular aplasia 16 / 7739
17
 (HPO:0001849) Foot oligodactyly common [HPO] 16826533 IBIS 9 / 7739
18
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
19
 (HPO:0006443) Patellar aplasia common [HPO] 16826533 IBIS 14 / 7739
20
 (HPO:0006143) Abnormal finger flexion creases typical [HPO] 9128926 IBIS 4 / 7739
21
 (HPO:0009700) Finger symphalangism Frequent [Orphanet] 55 / 7739
22
 (HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones frequent [HPO] 9128926 IBIS 8 / 7739
23
 (HPO:0011301) Absent foot Very frequent [Orphanet] 4 / 7739
24
 (HPO:0002984) Hypoplasia of the radius hallmark [HPO] 16826533 IBIS 44 / 7739
25
 (HPO:0006495) Aplasia/Hypoplasia of the ulna hallmark [HPO] 16826533 IBIS 7 / 7739
26
 (HPO:0001159) Syndactyly 140 / 7739
27
 (HPO:0001964) Aplasia/Hypoplasia of metatarsal bones frequent [HPO] 9128926 IBIS 5 / 7739
28
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
29
 (HPO:0006492) Aplasia/Hypoplasia of the fibula hallmark [HPO] 16826533 IBIS 3 / 7739
30
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] typical [HPO] 9128926 IBIS 119 / 7739
31
 (HPO:0010049) Short metacarpal 99 / 7739
32
 (HPO:0009465) Ulnar deviation of finger typical [HPO] 16826533 IBIS 48 / 7739
33
 (HPO:0100259) Postaxial polydactyly 85 / 7739
34
 (HPO:0005613) Aplasia/hypoplasia of the femur common [HPO] 9128926 IBIS 5 / 7739
35
 (HPO:0009767) Aplasia/Hypoplasia of the phalanges of the hand 5 / 7739
36
 (HPO:0008839) Hypoplastic pelvis common [HPO] 9128926 IBIS 18 / 7739
37
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
38
 (HPO:0002980) Femoral bowing hallmark [HPO] 16826533 IBIS 36 / 7739
39
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
40
 (HPO:0001180) Hand oligodactyly frequent [HPO] 9128926 IBIS 17 / 7739
41
 (HPO:0009380) Aplasia of the fingers Occasional [Orphanet] 51 / 7739
42
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
43
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
44
 (HPO:0004322) Short stature Very frequent [Orphanet] common [HPO] 9128926 IBIS 1232 / 7739
45
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
46
 (HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
47
 (HPO:0001802) Absent toenail 6 / 7739
48
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
49
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
50
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
51
 (OMIM) Absent/hypoplastic finger nails (thumb most severely affected) 1 / 7739
52
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
53
 (MedDRA:10058668) Clinodactyly 91 / 7739
54
 (OMIM) Short bowed radii 5 / 7739
55
 (OMIM) Bowed forearms 2 / 7739
56
 (OMIM) Hypoplastic/aplastic ulnae 1 / 7739
57
 (OMIM) Hypoplastic flexion creases dorsum of hand 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 boys and a girl of a Turkish-Arabian family working in Germany, Fuhrmann et al. (1980) described a 'new' syndrome consisting of bowing of the femurs, aplasia or hypoplasia of the fibula, and poly-, syn-, and oligodactyly. ...
Molecular genetics OMIM In the Pakistani Muslim family described by Kumar et al. (1997), Woods et al. (2006) found that affected individuals had 3 homozygous changes, all in exon 3 of the WNT7A gene: a missense mutation, 630G-A, that led to ...