U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adactyly

MedGen UID:
116066
Concept ID:
C0238591
Congenital Abnormality
Synonym: Adactylia
SNOMED CT: Adactyly (275348004)
 
HPO: HP:0009776

Definition

The absence of all phalanges of all the digits of a limb and the associated soft tissues. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdactyly

Conditions with this feature

Adactylia, unilateral
MedGen UID:
113098
Concept ID:
C0220660
Congenital Abnormality
Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
Aglossia-adactyly syndrome
MedGen UID:
354928
Concept ID:
C1863203
Disease or Syndrome
Hypoglossia-hypodactyly syndrome is characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs. Intelligence is normal (Hall, 1971). Hall (1971) classified what he termed the 'syndromes of oromandibular and limb hypogenesis,' which comprised a range of disorders with hypoglossia in common. Type I included hypoglossia and aglossia in isolation. Type II included hypoglossia with hypomelia/hypodactylia. Type III included glossopalatine ankylosis with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type IV included intraoral bands with fusion with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type V included several syndromes, such as Hanhart syndrome, Pierre Robin syndrome (261800), Moebius syndrome (157900), and amniotic band syndrome (217100). Hall (1971) noted that complete aglossia or adactylia had not been reported, and suggested that 'hypoglossia-hypodactylia' is a more accurate term. See also hypoglossia and situs inversus (612776).

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
Jurcă MC, Bembea M, Şandor MI, Zaha DC, Negrean RA, Vesa CM, Jurcă AA, Moisa FC, Vicaş LG, Paul C, Cheregi SD, Szilagyi A, Buhaş CL, Jurcă AD
Rom J Morphol Embryol 2019;60(4):1221-1226. PMID: 32239098
Man LX, Chang B
Plast Reconstr Surg 2006 Jan;117(1):301-8. doi: 10.1097/01.prs.0000194904.81981.71. PMID: 16404282
Engel LS, O'Meara ES, Schwartz SM
Scand J Work Environ Health 2000 Jun;26(3):193-8. doi: 10.5271/sjweh.531. PMID: 10901110
De Smet L, Fabry G
J Pediatr Orthop B 1998 Apr;7(2):158-61. doi: 10.1097/01202412-199804000-00014. PMID: 9597595

Diagnosis

Sánchez-Padilla AP, Valencia-Herrera AM, Toledo-Bahena ME, Mena-Cedillos CA, Toussaint-Caire S
Bol Med Hosp Infant Mex 2022;79(1):56-61. doi: 10.24875/BMHIM.21000013. PMID: 35086131
Birgmeier J, Esplin ED, Jagadeesh KA, Guturu H, Wenger AM, Chaib H, Buckingham JA, Bejerano G, Bernstein JA
Am J Med Genet A 2018 Apr;176(4):1030-1036. doi: 10.1002/ajmg.a.38636. PMID: 29575631
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
Puder M, Greene A, Mooney D
J Pediatr Surg 2002 Aug;37(8):1203-4. doi: 10.1053/jpsu.2002.34473. PMID: 12149703
Bronshtein M, Stahl S, Zimmer EZ
J Ultrasound Med 1995 Aug;14(8):591-5. doi: 10.7863/jum.1995.14.8.591. PMID: 7474057

Therapy

Bolea-Alamanac BM, Green A, Verma G, Maxwell P, Davies SJ
Br J Clin Pharmacol 2014 Jan;77(1):96-101. doi: 10.1111/bcp.12138. PMID: 23593966Free PMC Article
Man LX, Chang B
Plast Reconstr Surg 2006 Jan;117(1):301-8. doi: 10.1097/01.prs.0000194904.81981.71. PMID: 16404282
Honein MA, Paulozzi LJ, Watkins ML
Public Health Rep 2001 Jul-Aug;116(4):327-35. doi: 10.1093/phr/116.4.327. PMID: 12037261Free PMC Article
Engel LS, O'Meara ES, Schwartz SM
Scand J Work Environ Health 2000 Jun;26(3):193-8. doi: 10.5271/sjweh.531. PMID: 10901110
Hsieh FJ, Shyu MK, Sheu BC, Lin SP, Chen CP, Huang FY
Obstet Gynecol 1995 Jan;85(1):84-8. doi: 10.1016/0029-7844(94)00332-8. PMID: 7800331

Prognosis

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
Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA
Am J Med Genet A 2015 Jun;167(6):1360-4. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37037. PMID: 25898814Free PMC Article
Hsieh FJ, Shyu MK, Sheu BC, Lin SP, Chen CP, Huang FY
Obstet Gynecol 1995 Jan;85(1):84-8. doi: 10.1016/0029-7844(94)00332-8. PMID: 7800331
Miura T, Nakamura R, Horii E
J Hand Surg Br 1994 Jun;19(3):350-4. doi: 10.1016/0266-7681(94)90088-4. PMID: 8077827

Clinical prediction guides

Jurcă MC, Bembea M, Şandor MI, Zaha DC, Negrean RA, Vesa CM, Jurcă AA, Moisa FC, Vicaş LG, Paul C, Cheregi SD, Szilagyi A, Buhaş CL, Jurcă AD
Rom J Morphol Embryol 2019;60(4):1221-1226. PMID: 32239098
Birgmeier J, Esplin ED, Jagadeesh KA, Guturu H, Wenger AM, Chaib H, Buckingham JA, Bejerano G, Bernstein JA
Am J Med Genet A 2018 Apr;176(4):1030-1036. doi: 10.1002/ajmg.a.38636. PMID: 29575631
Engel LS, O'Meara ES, Schwartz SM
Scand J Work Environ Health 2000 Jun;26(3):193-8. doi: 10.5271/sjweh.531. PMID: 10901110
Bronshtein M, Stahl S, Zimmer EZ
J Ultrasound Med 1995 Aug;14(8):591-5. doi: 10.7863/jum.1995.14.8.591. PMID: 7474057
Bujdoso G, Lenz W
Eur J Pediatr 1980 May;133(3):207-15. doi: 10.1007/BF00496078. PMID: 7389732

Recent systematic reviews

Bolea-Alamanac BM, Green A, Verma G, Maxwell P, Davies SJ
Br J Clin Pharmacol 2014 Jan;77(1):96-101. doi: 10.1111/bcp.12138. PMID: 23593966Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...