U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Poland anomaly

MedGen UID:
10822
•Concept ID:
C0032357
•
Disease or Syndrome
Synonyms: POLAND SEQUENCE; POLAND SYNDACTYLY; Poland syndrome; Poland's syndrome; Unilateral defect of pectoralis muscle and syndactyly of the hand
SNOMED CT: Poland syndrome (38371006); Poland anomaly (38371006); Poland anomalad (38371006); Unilateral defect of pectoralis muscle AND syndactyly of hand (38371006)
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 dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0008262
OMIM®: 173800
Orphanet: ORPHA2911

Definition

Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported. [from OMIM]

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
•Concept ID:
C0039075
•
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
See: Feature record | Search on this feature
Unilateral brachydactyly
MedGen UID:
357435
•Concept ID:
C1868164
•
Finding
See: Feature record | Search on this feature
Unilateral oligodactyly
MedGen UID:
812191
•Concept ID:
C3805861
•
Finding
See: Feature record | Search on this feature
Dextrocardia
MedGen UID:
4255
•Concept ID:
C0011813
•
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
See: Feature record | Search on this feature
Congenital elevation of scapula
MedGen UID:
56291
•Concept ID:
C0152438
•
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
See: Feature record | Search on this feature
Hemivertebrae
MedGen UID:
82720
•Concept ID:
C0265677
•
Congenital Abnormality
Absence of one half of the vertebral body.
See: Feature record | Search on this feature
Rib fusion
MedGen UID:
78570
•Concept ID:
C0265695
•
Congenital Abnormality
Complete or partial merging of adjacent ribs.
See: Feature record | Search on this feature
Short ribs
MedGen UID:
98094
•Concept ID:
C0426817
•
Finding
Reduced rib length.
See: Feature record | Search on this feature
Absence of pectoralis minor muscle
MedGen UID:
401383
•Concept ID:
C1868158
•
Finding
Aplasia (congenital absence) of the pectoralis minor.
See: Feature record | Search on this feature
Hypoplasia of serratus anterior muscle
MedGen UID:
357438
•Concept ID:
C1868167
•
Finding
Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.
See: Feature record | Search on this feature
Hypoplasia of deltoid muscle
MedGen UID:
357440
•Concept ID:
C1868170
•
Finding
Underdevelopment of the deltoid muscle.
See: Feature record | Search on this feature
Hypoplasia of latissimus dorsi muscle
MedGen UID:
812190
•Concept ID:
C3805860
•
Finding
Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.
See: Feature record | Search on this feature
Unilateral absence of pectoralis major muscle
MedGen UID:
867278
•Concept ID:
C4021639
•
Finding
Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.
See: Feature record | Search on this feature
Unilateral hypoplasia of pectoralis major muscle
MedGen UID:
868704
•Concept ID:
C4023107
•
Anatomical Abnormality
Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.
See: Feature record | Search on this feature
Abnormality of the breast
MedGen UID:
871338
•Concept ID:
C4025829
•
Anatomical Abnormality
An abnormality of the breast.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPoland anomaly
Follow this link to review classifications for Poland anomaly in Orphanet.

Professional guidelines

PubMed

Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register.
O'Keefe D, Kennedy J, McCombe D, Coombs C, Hui L, Wilks D, Halliday J
J Paediatr Child Health 2022 Jan;58(1):122-128. Epub 2021 Aug 3 doi: 10.1111/jpc.15673. PMID: 34343375

Recent clinical studies

Etiology

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK
Eur J Hum Genet 2024 Jul;32(7):795-803. Epub 2024 May 22 doi: 10.1038/s41431-024-01629-4. PMID: 38778082Free PMC Article
Hand and upper limb anomalies in Poland syndrome: a new proposal of classification.
Catena N, Divizia MT, Calevo MG, Baban A, Torre M, Ravazzolo R, Lerone M, Sénès FM
J Pediatr Orthop 2012 Oct-Nov;32(7):727-31. doi: 10.1097/BPO.0b013e318269c898. PMID: 22955538
Familial Poland anomaly revisited.
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
Hemihyperplasia syndromes.
Dalal AB, Phadke SR, Pradhan M, Sharda S
Indian J Pediatr 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. PMID: 16877856
Familial Poland anomaly.
David TJ
J Med Genet 1982 Aug;19(4):293-6. doi: 10.1136/jmg.19.4.293. PMID: 6288948Free PMC Article

Diagnosis

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK
Eur J Hum Genet 2024 Jul;32(7):795-803. Epub 2024 May 22 doi: 10.1038/s41431-024-01629-4. PMID: 38778082Free PMC Article
Hypothesis: Symbrachydactyly.
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Presentation and Treatment of Poland Anomaly.
Buckwalter V JA, Shah AS
Hand (N Y) 2016 Dec;11(4):389-395. Epub 2016 Oct 10 doi: 10.1177/1558944716647355. PMID: 28149203Free PMC Article
Familial Poland anomaly revisited.
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
Hemihyperplasia syndromes.
Dalal AB, Phadke SR, Pradhan M, Sharda S
Indian J Pediatr 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. PMID: 16877856

Therapy

Breast asymmetry during adolescence: physiologic and non-physiologic causes.
Eidlitz-Markus T, Mukamel M, Haimi-Cohen Y, Amir J, Zeharia A
Isr Med Assoc J 2010 Apr;12(4):203-6. PMID: 20803877
CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years.
Chen CP, Liu FF, Jan SW, Lin SP, Lan CC
Am J Med Genet 1996 Jun 14;63(3):447-53. doi: 10.1002/(SICI)1096-8628(19960614)63:3<447::AID-AJMG6>3.0.CO;2-O. PMID: 8737650
Poland anomaly after in vitro fertilization.
Avrech OM, Merlob P, Neri A, Kaplan B, Ovadia J, Fisch B
Fertil Steril 1994 Dec;62(6):1268-70. doi: 10.1016/s0015-0282(16)57198-2. PMID: 7957997
Debendox does not cause the Poland anomaly.
David TJ
Arch Dis Child 1982 Jun;57(6):479-80. doi: 10.1136/adc.57.6.479. PMID: 7092316Free PMC Article
Nature and etiology of the Poland anomaly.
David TJ
N Engl J Med 1972 Sep 7;287(10):487-9. doi: 10.1056/NEJM197209072871004. PMID: 4340236

Prognosis

Moebius sequence -a multidisciplinary clinical approach.
Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B, Østergaard JR
Orphanet J Rare Dis 2017 Jan 6;12(1):4. doi: 10.1186/s13023-016-0559-z. PMID: 28061881Free PMC Article
Clinical characteristics and outcomes of Möbius syndrome in a children's hospital.
Matsui K, Kataoka A, Yamamoto A, Tanoue K, Kurosawa K, Shibasaki J, Ohyama M, Aida N
Pediatr Neurol 2014 Dec;51(6):781-9. Epub 2014 Aug 27 doi: 10.1016/j.pediatrneurol.2014.08.011. PMID: 25306435
Poland anomaly and hydranencephaly: An unusual association.
Coban D, Gunes T, Akin MA, Akcakus M, Yikilmaz A
Am J Med Genet A 2010 Dec;152A(12):3182-4. doi: 10.1002/ajmg.a.33306. PMID: 21108405
A newborn with Poland anomaly and liver ectopy: an unusual association with important prognostic implications.
Chalak LF, Parham DM
Pediatr Dev Pathol 2007 Mar-Apr;10(2):134-7. doi: 10.2350/06-04-00801.1. PMID: 17378683
Mobius sequence--a Swedish multidiscipline study.
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954

Clinical prediction guides

Moebius sequence -a multidisciplinary clinical approach.
Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B, Østergaard JR
Orphanet J Rare Dis 2017 Jan 6;12(1):4. doi: 10.1186/s13023-016-0559-z. PMID: 28061881Free PMC Article
Clinical characteristics and outcomes of Möbius syndrome in a children's hospital.
Matsui K, Kataoka A, Yamamoto A, Tanoue K, Kurosawa K, Shibasaki J, Ohyama M, Aida N
Pediatr Neurol 2014 Dec;51(6):781-9. Epub 2014 Aug 27 doi: 10.1016/j.pediatrneurol.2014.08.011. PMID: 25306435
Hand and upper limb anomalies in Poland syndrome: a new proposal of classification.
Catena N, Divizia MT, Calevo MG, Baban A, Torre M, Ravazzolo R, Lerone M, Sénès FM
J Pediatr Orthop 2012 Oct-Nov;32(7):727-31. doi: 10.1097/BPO.0b013e318269c898. PMID: 22955538
Mobius sequence--a Swedish multidiscipline study.
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954
The möbius sequence: a relook.
Miller MT, Strömland K
J AAPOS 1999 Aug;3(4):199-208. doi: 10.1016/s1091-8531(99)70003-0. PMID: 10477221

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...