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Acheiropodia(ACHP)

MedGen UID:: 120547
•Concept ID:: C0265559
•: Congenital Abnormality

Synonyms:	Acheiropody; Acheiropody, Brazilian type; ACHP
SNOMED CT:	Acheiropodia (177504007); Agenesis of hands AND feet (177504007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	LMBR1 (7q36.3)

Monarch Initiative:	MONDO:0008700
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

From HPO

Absent hand

MedGen UID:: 488815
•Concept ID:: C0265594
•: Congenital Abnormality

The total absence of the hand, with no bony elements distal to the radius or ulna.

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Absent radius

MedGen UID:: 235613
•Concept ID:: C1405984
•: Congenital Abnormality

Missing radius bone associated with congenital failure of development.

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Absent forearm

MedGen UID:: 278055
•Concept ID:: C1408532
•: Finding

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Short humerus

MedGen UID:: 316907
•Concept ID:: C1832117
•: Congenital Abnormality

Underdevelopment of the humerus.

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Fibular aplasia

MedGen UID:: 373034
•Concept ID:: C1836186
•: Finding

Absence of the fibula.

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Carpal bone aplasia

MedGen UID:: 324464
•Concept ID:: C1836219
•: Finding

Congenital absence of a carpal bone.

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Aplasia of metacarpal bones

MedGen UID:: 335431
•Concept ID:: C1846473
•: Finding

Developmental defect associated with absence of one or more metacarpal bones.

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Short tibia

MedGen UID:: 338005
•Concept ID:: C1850259
•: Finding

Underdevelopment (reduced size) of the tibia.

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Aplasia of the ulna

MedGen UID:: 394508
•Concept ID:: C2678397
•: Finding

Missing ulna bone associated with congenital failure of development.

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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.

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Absent metatarsal bone

MedGen UID:: 866877
•Concept ID:: C4021232
•: Finding

A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.

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Aplasia of the tarsal bones

MedGen UID:: 866901
•Concept ID:: C4021257
•: Anatomical Abnormality

Absence of the tarsal bones.

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Peromelia

MedGen UID:: 869763
•Concept ID:: C4024192
•: Anatomical Abnormality

The distal parts of the limbs are missing leading to a stump formation.

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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.

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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.

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Abnormality of limbs

Professional guidelines

PubMed

Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling.

Freire-Maia A, Freire-Maia N, Schull WJ
Hum Hered 1975;25(4):329-36. doi: 10.1159/000152743. PMID: 126945

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Recent clinical studies

Etiology

Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis.

Freire-Maia A, Freire-Maia N, Morton NE, Azevêdo ES, Quelce-Salgado A
Am J Hum Genet 1975 Jul;27(4):521-7. PMID: 1155460 Free PMC Article

Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling.

Freire-Maia A, Freire-Maia N, Schull WJ
Hum Hered 1975;25(4):329-36. doi: 10.1159/000152743. PMID: 126945

See all (2)

Prognosis

Novel copy number variants and major limb reduction malformation: Report of three cases.

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

Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics.

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

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Clinical prediction guides

Novel copy number variants and major limb reduction malformation: Report of three cases.

A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.

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: 10780921 Free PMC Article

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Acheiropodia(ACHP)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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Molecular resources

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