Acheiropodia

General Information (adopted from Orphanet):

Synonyms, Signs: ACHEIROPODIA
ACHEIROPODY, BRAZILIAN TYPE
ACHP
Acheiropody
Number of Symptoms 38
OrphanetNr: 931
OMIM Id: 200500
ICD-10: Q74.8
UMLs: C0265559
MeSH: C536014
MedDRA:
Snomed: 177504007

Prevalence, inheritance and age of onset:

Prevalence: < 10 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Terminal limb defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0009829) Phocomelia 20 / 7739
2
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
3
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
4
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
5
 (HPO:0009802) Aplasia of the phalanges of the hand hallmark [HPO] 1 / 7739
6
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
7
 (HPO:0010509) Aplasia of the tarsal bones hallmark [HPO] 1 / 7739
8
 (HPO:0002990) Fibular aplasia hallmark [HPO] 16 / 7739
9
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
10
 (HPO:0010760) Absent toe hallmark [HPO] 15 / 7739
11
 (HPO:0009820) Lower limb peromelia hallmark [HPO] 1 / 7739
12
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
13
 (HPO:0002983) Micromelia 130 / 7739
14
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
15
 (HPO:0011301) Absent foot 4 / 7739
16
 (HPO:0004050) Absent hand Very frequent [Orphanet] hallmark [HPO] 9 / 7739
17
 (HPO:0005736) Short tibia hallmark [HPO] 19 / 7739
18
 (HPO:0005792) Short humerus hallmark [HPO] 34 / 7739
19
 (HPO:0009827) Amelia 12 / 7739
20
 (HPO:0004231) Carpal bone aplasia hallmark [HPO] 5 / 7739
21
 (HPO:0010744) Absent metatarsal bone hallmark [HPO] 1 / 7739
22
 (HPO:0003974) Absent radius hallmark [HPO] 26 / 7739
23
 (HPO:0010048) Aplasia of metacarpal bones hallmark [HPO] 6 / 7739
24
 (HPO:0003027) Mesomelia 58 / 7739
25
 (HPO:0005632) Absent forearm hallmark [HPO] 4 / 7739
26
 (HPO:0003982) Absent ulna hallmark [HPO] 7 / 7739
27
 (OMIM) Metacarpal aplasia 1 / 7739
28
 (OMIM) Metatarsal aplasia 1 / 7739
29
 (OMIM) Complete amputation of distal humeral epiphyses 1 / 7739
30
 (OMIM) Phalangeal aplasia 1 / 7739
31
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
32
 (OMIM) Tarsal aplasia 1 / 7739
33
 (OMIM) Ulnar aplasia 1 / 7739
34
 (OMIM) Carpal aplasia 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Amputation of distal tibial diaphyses 1 / 7739
37
 (OMIM) Bohomoletz bone (ectopic bone at distal end of humerus) 1 / 7739
38
 (OMIM) Congenital quadruple amputation of upper and lower extremities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of ...
Clinical Description OMIM Toledo and Saldanha (1969) described an inbred Brazilian kindred of Portuguese ancestry in which multiple members had absence of the hands and feet, with the arms and legs ending in stumps. Freire-Maia et al. (1975) stated that at ...
Molecular genetics OMIM Ianakiev et al. (2001) identified a deletion in the human ortholog of the mouse Lmbr1 gene in all 5 Brazilian families studied, thus identifying the common acheiropody mutation; see 605522.0001. One of the families (pedigree 4) had been ...
Population genetics OMIM Freire-Maia et al. (1975) estimated the incidence of acheiropody in Brazil to be 1 in 250,000 births.