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Unilateral brachydactyly

MedGen UID:
357435
•Concept ID:
C1868164
•
Finding
Synonym: Short digits on one side
 
HPO: HP:0006008

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnilateral brachydactyly

Conditions with this feature

Poland anomaly
MedGen UID:
10822
•Concept ID:
C0032357
•
Disease or Syndrome
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.
See: Condition Record
Poland anomaly

Recent clinical studies

Etiology

Unilateral congenital terminal finger absences: a condition that differs from symbrachydactyly.
Knight JB, Pritsch T, Ezaki M, Oishi SN
J Hand Surg Am 2012 Jan;37(1):124-9. Epub 2011 Nov 3 doi: 10.1016/j.jhsa.2011.09.018. PMID: 22051235
The carpal bones in Poland syndrome.
Friedman T, Reed M, Elliott AM
Skeletal Radiol 2009 Jun;38(6):585-91. Epub 2009 Jan 30 doi: 10.1007/s00256-008-0638-x. PMID: 19183988
Down syndrome: clinical profile from India.
Kava MP, Tullu MS, Muranjan MN, Girisha KM
Arch Med Res 2004 Jan-Feb;35(1):31-5. doi: 10.1016/j.arcmed.2003.06.005. PMID: 15036797
Perthes-like changes in geleophysic dysplasia.
Keret D, Lokiec F, Hayek S, Segev E, Ezra E
J Pediatr Orthop B 2002 Apr;11(2):100-3. doi: 10.1097/00009957-200204000-00003. PMID: 11943981
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E
J Neurosurg 2000 Apr;92(4):631-6. doi: 10.3171/jns.2000.92.4.0631. PMID: 10761652

Diagnosis

Diagnostic value of chest computed tomography images in adult Poland syndrome: a report of two cases.
Lei S, Gui S, Zhang H, Wang Y, Liu R, Ye Y, Zhang S, Fan B
J Int Med Res 2022 Jan;50(1):3000605211069485. doi: 10.1177/03000605211069485. PMID: 34994238Free PMC Article
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
Unilateral congenital terminal finger absences: a condition that differs from symbrachydactyly.
Knight JB, Pritsch T, Ezaki M, Oishi SN
J Hand Surg Am 2012 Jan;37(1):124-9. Epub 2011 Nov 3 doi: 10.1016/j.jhsa.2011.09.018. PMID: 22051235
Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP
Am J Med Genet A 2007 Nov 15;143A(22):2700-5. doi: 10.1002/ajmg.a.32005. PMID: 17937441
Down syndrome: clinical profile from India.
Kava MP, Tullu MS, Muranjan MN, Girisha KM
Arch Med Res 2004 Jan-Feb;35(1):31-5. doi: 10.1016/j.arcmed.2003.06.005. PMID: 15036797

Therapy

Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Unilateral congenital terminal finger absences: a condition that differs from symbrachydactyly.
Knight JB, Pritsch T, Ezaki M, Oishi SN
J Hand Surg Am 2012 Jan;37(1):124-9. Epub 2011 Nov 3 doi: 10.1016/j.jhsa.2011.09.018. PMID: 22051235
Perthes-like changes in geleophysic dysplasia.
Keret D, Lokiec F, Hayek S, Segev E, Ezra E
J Pediatr Orthop B 2002 Apr;11(2):100-3. doi: 10.1097/00009957-200204000-00003. PMID: 11943981
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E
J Neurosurg 2000 Apr;92(4):631-6. doi: 10.3171/jns.2000.92.4.0631. PMID: 10761652

Clinical prediction guides

Diagnostic value of chest computed tomography images in adult Poland syndrome: a report of two cases.
Lei S, Gui S, Zhang H, Wang Y, Liu R, Ye Y, Zhang S, Fan B
J Int Med Res 2022 Jan;50(1):3000605211069485. doi: 10.1177/03000605211069485. PMID: 34994238Free PMC Article
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.
Zimmer J, Doelken SC, Horn D, Groppe JC, Shore EM, Kaplan FS, Seemann P
PLoS One 2012;7(4):e35062. Epub 2012 Apr 18 doi: 10.1371/journal.pone.0035062. PMID: 22529972Free PMC Article
A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.
Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y
Brain Dev 2011 Feb;33(2):174-6. Epub 2010 May 4 doi: 10.1016/j.braindev.2010.04.001. PMID: 20444562
A case of symbrachydactyly with oligodactyly.
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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