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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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
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

Absent hand
MedGen UID:
140879
Concept ID:
C0426868
Finding
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absent radius
MedGen UID:
340290
Concept ID:
C1849314
Finding
Short tibia
MedGen UID:
349727
Concept ID:
C1860108
Finding
Absent ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
Absent toe
MedGen UID:
766668
Concept ID:
C3553754
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
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 tibia
MedGen UID:
446462
Concept ID:
CN002706
Finding
Abnormality of the tibia (shinbone).
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).
Carpal bone aplasia
MedGen UID:
428436
Concept ID:
CN003738
Finding
Congenital absence of a carpal bone.
Short humerus
MedGen UID:
428188
Concept ID:
CN005116
Finding
Underdevelopment of the humerus.
Abnormality of epiphysis morphology
MedGen UID:
425804
Concept ID:
CN005226
Finding
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.
Aplasia of the phalanges of the hand
MedGen UID:
429448
Concept ID:
CN008659
Finding
Absence of one or more of the phalanges of the hand.
Upper limb phocomelia
MedGen UID:
447125
Concept ID:
CN008670
Finding
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).
Lower limb peromelia
MedGen UID:
447127
Concept ID:
CN008677
Finding
Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
Aplasia of metacarpal bones
MedGen UID:
447179
Concept ID:
CN008883
Finding
Developmental defect associated with absence of one or more metacarpal bones.
Aplasia of the tarsal bones
MedGen UID:
430015
Concept ID:
CN009340
Finding
Absence of the tarsal bones.
Absent metatarsal bone
MedGen UID:
426767
Concept ID:
CN009570
Finding
A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.
Absent hand
MedGen UID:
140879
Concept ID:
C0426868
Finding
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absent radius
MedGen UID:
340290
Concept ID:
C1849314
Finding
Short tibia
MedGen UID:
349727
Concept ID:
C1860108
Finding
Absent ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
Absent toe
MedGen UID:
766668
Concept ID:
C3553754
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
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 tibia
MedGen UID:
446462
Concept ID:
CN002706
Finding
Abnormality of the tibia (shinbone).
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).
Carpal bone aplasia
MedGen UID:
428436
Concept ID:
CN003738
Finding
Congenital absence of a carpal bone.
Absent forearm
MedGen UID:
505845
Concept ID:
CN004988
Finding
Short humerus
MedGen UID:
428188
Concept ID:
CN005116
Finding
Underdevelopment of the humerus.
Aplasia of the phalanges of the hand
MedGen UID:
429448
Concept ID:
CN008659
Finding
Absence of one or more of the phalanges of the hand.
Upper limb phocomelia
MedGen UID:
447125
Concept ID:
CN008670
Finding
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).
Lower limb peromelia
MedGen UID:
447127
Concept ID:
CN008677
Finding
Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
Aplasia of metacarpal bones
MedGen UID:
447179
Concept ID:
CN008883
Finding
Developmental defect associated with absence of one or more metacarpal bones.
Aplasia of the tarsal bones
MedGen UID:
430015
Concept ID:
CN009340
Finding
Absence of the tarsal bones.
Absent metatarsal bone
MedGen UID:
426767
Concept ID:
CN009570
Finding
A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGAcheiropodia

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

Freire-Maia A, Li WH, Maruyama T
Am J Hum Genet 1975 Sep;27(5):665-75. PMID: 1163539Free PMC Article

Clinical prediction guides

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. [Epub ahead of print] PMID: 10780921Free PMC Article

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