U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Oligodactyly

MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
HPO: HP:0012165

Definition

A developmental defect resulting in the presence of fewer than the normal number of digits. [from HPO]

Term Hierarchy

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
Baller-Gerold syndrome
MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
Bartsocas-Papas syndrome 1
MedGen UID:
337894
Concept ID:
C1849718
Disease or Syndrome
Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).
Brachydactyly-syndactyly syndrome
MedGen UID:
377836
Concept ID:
C1853137
Disease or Syndrome
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
Microcephaly-micromelia syndrome
MedGen UID:
381553
Concept ID:
C1855079
Disease or Syndrome
Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).
Acrofacial dysostosis Rodriguez type
MedGen UID:
349730
Concept ID:
C1860119
Disease or Syndrome
A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.
Chromosome 17P13.3, telomeric, duplication syndrome
MedGen UID:
390813
Concept ID:
C2675492
Disease or Syndrome
Santos syndrome
MedGen UID:
414444
Concept ID:
C2751698
Disease or Syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome
MedGen UID:
482359
Concept ID:
C3280729
Disease or Syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.
Tessadori-van Haaften neurodevelopmental syndrome 1
MedGen UID:
1810348
Concept ID:
C5676922
Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017). Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833).

Professional guidelines

PubMed

Morales Roselló J, García Almela A, Pérez Corella DA, Montesinos Sepúlveda L
J Ultrasound Med 2012 Nov;31(11):1856-7. doi: 10.7863/jum.2012.31.11.1856. PMID: 23091259
Pajkrt E, Griffin DR, Chitty LS
Prenat Diagn 2010 Sep;30(9):865-72. doi: 10.1002/pd.2577. PMID: 20665529

Recent clinical studies

Etiology

Meireles BCS, Goldschmidt B, Leal GM, Dias F, Cordeiro NF, Filho PRF, Barros ML
J Med Primatol 2023 Jun;52(3):205-209. Epub 2023 Apr 16 doi: 10.1111/jmp.12643. PMID: 37062949
Mantilla-Rivas E, Brennan A, Goldrich A, Bryant JR, Oh AK, Rogers GF
Hand (N Y) 2020 Jan;15(1):NP14-NP21. Epub 2019 Sep 22 doi: 10.1177/1558944719837657. PMID: 31542953Free PMC Article
Kariya PB, Shah S, Singh S, Buch A
J Clin Pediatr Dent 2019;43(5):356-359. doi: 10.17796/1053-4625-43.5.10. PMID: 31560585
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Oostra RJ, Boer L, van der Merwe AE
Clin Anat 2016 Oct;29(7):878-91. Epub 2016 Sep 7 doi: 10.1002/ca.22769. PMID: 27554863

Diagnosis

Twayana AR, Sunuwar N, Deo S, Rayamajhi S, Sherpa NTT, Anjum F
JNMA J Nepal Med Assoc 2022 Aug 1;60(252):743-746. doi: 10.31729/jnma.7585. PMID: 36705217Free PMC Article
Salari B, Dehner LP
Fetal Pediatr Pathol 2022 Jun;41(3):396-402. Epub 2020 Oct 7 doi: 10.1080/15513815.2020.1827320. PMID: 33026893
Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE
Eur J Med Genet 2019 Jul;62(7):103664. Epub 2019 May 5 doi: 10.1016/j.ejmg.2019.05.003. PMID: 31067494
Oostra RJ, Boer L, van der Merwe AE
Clin Anat 2016 Oct;29(7):878-91. Epub 2016 Sep 7 doi: 10.1002/ca.22769. PMID: 27554863
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764

Therapy

Mantilla-Rivas E, Brennan A, Goldrich A, Bryant JR, Oh AK, Rogers GF
Hand (N Y) 2020 Jan;15(1):NP14-NP21. Epub 2019 Sep 22 doi: 10.1177/1558944719837657. PMID: 31542953Free PMC Article
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J
Eur J Med Genet 2014 Sep;57(9):503-9. Epub 2014 May 27 doi: 10.1016/j.ejmg.2014.05.006. PMID: 24874887
Vaux KK, Kahole NC, Jones KL
Birth Defects Res A Clin Mol Teratol 2003 Jun;67(6):403-8. doi: 10.1002/bdra.10060. PMID: 12962283
Marles SL, Reed M, Evans JA
Am J Med Genet A 2003 Jan 1;116A(1):85-9. doi: 10.1002/ajmg.a.10731. PMID: 12476458
Enns GM, Roeder E, Chan RT, Ali-Khan Catts Z, Cox VA, Golabi M
Am J Med Genet 1999 Sep 17;86(3):237-41. PMID: 10482872

Prognosis

Twayana AR, Sunuwar N, Deo S, Rayamajhi S, Sherpa NTT, Anjum F
JNMA J Nepal Med Assoc 2022 Aug 1;60(252):743-746. doi: 10.31729/jnma.7585. PMID: 36705217Free PMC Article
Nocoń-Bohusz J, Basiak A, Bosak-Prus M, Noczyńska A
Pediatr Endocrinol Diabetes Metab 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253. PMID: 32270976
Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150
Gul A, Cebeci A, Erol O, Ceylan Y, Basaran S, Yuksel A
Obstet Gynecol 2005 May;105(5 Pt 2):1227-9. doi: 10.1097/01.AOG.0000157768.30916.4f. PMID: 15863591
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Clinical prediction guides

Silveira KC, Fonseca IC, Oborn C, Wengryn P, Ghafoor S, Beke A, Dreseris ES, Wong C, Iacovone A, Soltys CL, Babul-Hirji R, Artigalas O, Antolini-Tavares A, Gingras AC, Campos E, Cavalcanti DP, Kannu P
Hum Genet 2023 Nov;142(11):1571-1586. Epub 2023 Sep 27 doi: 10.1007/s00439-023-02598-2. PMID: 37755482Free PMC Article
Kariya PB, Shah S, Singh S, Buch A
J Clin Pediatr Dent 2019;43(5):356-359. doi: 10.17796/1053-4625-43.5.10. PMID: 31560585
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y
J Med Genet 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266. PMID: 1583650Free PMC Article
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...