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Acheiropodia(ACHP)

MedGen UID:
120547
Concept ID:
C0265559
Congenital Abnormality
Synonyms: Acheiropody; Acheiropody, Brazilian type; ACHP
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Acheiropodia (177504007); Agenesis of hands AND feet (177504007)
 
Gene (location): LMBR1 (7q36.3)
OMIM®: 200500
Orphanet: ORPHA931

Definition

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 the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001). [from OMIM]

Clinical features

Upper limb phocomelia
MedGen UID:
82715
Concept ID:
C0265573
Congenital Abnormality
Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Absent hand
MedGen UID:
140879
Concept ID:
C0426868
Finding
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Absent forearm
MedGen UID:
278055
Concept ID:
C1408532
Finding
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Finding
Underdevelopment of the humerus.
Carpal bone aplasia
MedGen UID:
324464
Concept ID:
C1836219
Finding
Congenital absence of a carpal bone.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Absent ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
A small/hypoplastic or absent/aplastic radius.
Absent toe
MedGen UID:
766668
Concept ID:
C3553754
Finding
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Aplasia of the tarsal bones
MedGen UID:
866901
Concept ID:
C4021257
Anatomical Abnormality
Absence of the tarsal bones.
Lower limb peromelia
MedGen UID:
869767
Concept ID:
C4024196
Anatomical Abnormality
Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
Aplasia of the phalanges of the hand
MedGen UID:
869774
Concept ID:
C4024203
Finding
Absence of one or more of the phalanges of the hand.
Abnormality of the tibia
MedGen UID:
871186
Concept ID:
C4025663
Anatomical Abnormality
Abnormality of the tibia (shinbone).
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Abnormality of the ulna
MedGen UID:
446463
Concept ID:
CN002710
Finding
An abnormality of the ulna bone of the forearm.
Abnormality of the humerus
MedGen UID:
428325
Concept ID:
CN002762
Finding
An abnormality of the humerus (i.e., upper arm bone).
Upper limb phocomelia
MedGen UID:
82715
Concept ID:
C0265573
Congenital Abnormality
Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Absent hand
MedGen UID:
140879
Concept ID:
C0426868
Finding
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Finding
Underdevelopment of the humerus.
Carpal bone aplasia
MedGen UID:
324464
Concept ID:
C1836219
Finding
Congenital absence of a carpal bone.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Absent ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
A small/hypoplastic or absent/aplastic radius.
Absent toe
MedGen UID:
766668
Concept ID:
C3553754
Finding
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Aplasia of the tarsal bones
MedGen UID:
866901
Concept ID:
C4021257
Anatomical Abnormality
Absence of the tarsal bones.
Abnormality of epiphysis morphology
MedGen UID:
867251
Concept ID:
C4021611
Anatomical Abnormality
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Lower limb peromelia
MedGen UID:
869767
Concept ID:
C4024196
Anatomical Abnormality
Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
Aplasia of the phalanges of the hand
MedGen UID:
869774
Concept ID:
C4024203
Finding
Absence of one or more of the phalanges of the hand.
Abnormality of the tibia
MedGen UID:
871186
Concept ID:
C4025663
Anatomical Abnormality
Abnormality of the tibia (shinbone).
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Abnormality of the ulna
MedGen UID:
446463
Concept ID:
CN002710
Finding
An abnormality of the ulna bone of the forearm.
Abnormality of the humerus
MedGen UID:
428325
Concept ID:
CN002762
Finding
An abnormality of the humerus (i.e., upper arm bone).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcheiropodia
Follow this link to review classifications for Acheiropodia in Orphanet.

Recent clinical studies

Etiology

Freire-Maia N, Elisbão T
Am J Med Genet 1984 Jul;18(3):391-400. doi: 10.1002/ajmg.1320180306. PMID: 6475999
Freire-Maia A, Freire-Maia N, Morton NE, Azevêdo ES, Quelce-Salgado A
Am J Hum Genet 1975 Jul;27(4):521-7. PMID: 1155460Free PMC Article
Freire-Maia A, Freire-Maia N, Schull WJ
Hum Hered 1975;25(4):329-36. PMID: 126945

Prognosis

Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih MA, Al-Qattan MM, Hashem M, Alsedairy H, Alkuraya FS
Am J Med Genet A 2016 May;170A(5):1245-50. Epub 2016 Jan 8 doi: 10.1002/ajmg.a.37550. PMID: 26749485
Freire-Maia A, Li WH, Maruyama T
Am J Hum Genet 1975 Sep;27(5):665-75. PMID: 1163539Free PMC Article

Clinical prediction guides

Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih MA, Al-Qattan MM, Hashem M, Alsedairy H, Alkuraya FS
Am J Med Genet A 2016 May;170A(5):1245-50. Epub 2016 Jan 8 doi: 10.1002/ajmg.a.37550. PMID: 26749485
Escamilla MA, DeMille MC, Benavides E, Roche E, Almasy L, Pittman S, Hauser J, Lew DF, Freimer NB, Whittle MR
Am J Hum Genet 2000 Jun;66(6):1995-2000. Epub 2000 Apr 25 doi: 10.1086/302921. PMID: 10780921Free PMC Article

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