Fibular aplasia - complex brachydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: du pan syndrome
Number of Symptoms 37
OrphanetNr: 2639
OMIM Id: 228900
ICD-10: Q73.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Acromesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
2
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
3
 (HPO:0001772) Talipes equinovalgus frequent [HPO] 7 / 7739
4
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
5
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
6
 (HPO:0002999) Patellar dislocation typical [HPO] 12121354 IBIS 46 / 7739
7
 (HPO:0010049) Short metacarpal typical [HPO] 12121354 IBIS 99 / 7739
8
 (HPO:0010743) Short metatarsal typical [HPO] 12121354 IBIS 56 / 7739
9
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
10
 (HPO:0004686) Short third metatarsal 9 / 7739
11
 (HPO:0002990) Fibular aplasia hallmark [HPO] 2363425 IBIS 16 / 7739
12
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
13
 (HPO:0010760) Absent toe typical [HPO] 12121354 IBIS 15 / 7739
14
 (HPO:0009803) Short phalanx of finger typical [HPO] 12121354 IBIS 79 / 7739
15
 (HPO:0003038) Fibular hypoplasia 30 / 7739
16
 (HPO:0004097) Deviation of finger typical [HPO] 12121354 IBIS 13 / 7739
17
 (HPO:0006092) Malaligned carpal bone typical [HPO] 12121354 IBIS 1 / 7739
18
 (HPO:0008119) Deformed tarsal bones typical [HPO] 12121354 IBIS 1 / 7739
19
 (HPO:0001156) Brachydactyly syndrome hallmark [HPO] 180 / 7739
20
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
21
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
22
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
23
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
24
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
25
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
26
 (HPO:0005720) Shortening of all metacarpals 12 / 7739
27
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
28
 (HPO:0008905) Rhizomelia frequent [HPO] 12121354 IBIS 85 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0001792) Small nail typical [HPO] 12121354 IBIS 55 / 7739
31
 (HPO:0010624) Aplastic/hypoplastic toenail 3 / 7739
32
 (OMIM) Mild hand shortness 1 / 7739
33
 (OMIM) Displaced patella 1 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (OMIM) Ball-like toes 1 / 7739
36
 (OMIM) Absent-rudimentary phalanges 1 / 7739
37
 (OMIM) Brachydactyly, complex 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM This syndrome was probably first described by Du Pan (1924) who reported the isolated case of a boy with a complex type of brachydactyly associated with bilateral absence of the fibula. The same disorder was described by Grebe ...
Molecular genetics OMIM Because of similarities to the Hunter-Thompson (201250) and Grebe (200700) types of acromesomelic chondrodysplasia, Faiyaz-Ul-Haque et al. (2002) examined genomic DNA from a Pakistani family with Du Pan syndrome for mutations in the GDF5 gene and identified homozygosity ...