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Absent thumb-short stature-immunodeficiency syndrome

MedGen UID:
338553
Concept ID:
C1848818
Disease or Syndrome
Synonym: Thumb agenesis, short stature, and immunodeficiency
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
OMIM®: 274190
Orphanet: ORPHA2951

Definition

An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. [from ORDO]

Clinical features

From HPO
Absent thumb
MedGen UID:
480441
Concept ID:
C3278811
Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Abnormal cardiac septum morphology
MedGen UID:
6752
Concept ID:
C0018816
Congenital Abnormality
An anomaly of the intra-atrial or intraventricular septum.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Severe combined immunodeficiency disease
MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
Abnormality of the integument
MedGen UID:
871273
Concept ID:
C4025761
Anatomical Abnormality
An abnormality of the integument, which consists of the skin and the superficial fascia.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent thumb-short stature-immunodeficiency syndrome
Follow this link to review classifications for Absent thumb-short stature-immunodeficiency syndrome in Orphanet.

Professional guidelines

PubMed

Dalmau J, Graus F
Lancet Neurol 2023 Jun;22(6):529-540. doi: 10.1016/S1474-4422(23)00083-2. PMID: 37210100
Simonetto DA, Gines P, Kamath PS
BMJ 2020 Sep 14;370:m2687. doi: 10.1136/bmj.m2687. PMID: 32928750
Couser WG
Clin J Am Soc Nephrol 2017 Jun 7;12(6):983-997. Epub 2017 May 26 doi: 10.2215/CJN.11761116. PMID: 28550082Free PMC Article

Recent clinical studies

Etiology

Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. PMID: 31577259Free PMC Article
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. PMID: 30578505
de la Morena MT
J Allergy Clin Immunol Pract 2016 Nov-Dec;4(6):1023-1036. doi: 10.1016/j.jaip.2016.09.013. PMID: 27836054
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article

Diagnosis

Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Zarate YA, Fish JL
Am J Med Genet A 2017 Feb;173(2):327-337. Epub 2016 Oct 24 doi: 10.1002/ajmg.a.38022. PMID: 27774744Free PMC Article
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Toriello HV
Semin Thromb Hemost 2011 Sep;37(6):707-12. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291381. PMID: 22102274
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article

Therapy

Baldo F, Barbi E, Tornese G
Ital J Pediatr 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. PMID: 34488834Free PMC Article
Morley LC, Tang T, Yasmin E, Norman RJ, Balen AH
Cochrane Database Syst Rev 2017 Nov 29;11(11):CD003053. doi: 10.1002/14651858.CD003053.pub6. PMID: 29183107Free PMC Article
Smart KM, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Marjoribanks J, Brown J, O'Brien PM, Wyatt K
Cochrane Database Syst Rev 2013 Jun 7;2013(6):CD001396. doi: 10.1002/14651858.CD001396.pub3. PMID: 23744611Free PMC Article

Prognosis

Buyon JP, Kim MY, Guerra MM, Laskin CA, Petri M, Lockshin MD, Sammaritano L, Branch DW, Porter TF, Sawitzke A, Merrill JT, Stephenson MD, Cohn E, Garabet L, Salmon JE
Ann Intern Med 2015 Aug 4;163(3):153-63. doi: 10.7326/M14-2235. PMID: 26098843Free PMC Article
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Marazzi C, Scoditti U, Ticinesi A, Nouvenne A, Pigna F, Guida L, Morelli I, Borghi L, Meschi T
Acta Biomed 2014 Dec 17;85(3):229-35. PMID: 25567459
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Lancet 1988 Nov 12;2(8620):1117-8. PMID: 2903329

Clinical prediction guides

Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D
Int J Mol Sci 2022 Oct 19;23(20) doi: 10.3390/ijms232012564. PMID: 36293418Free PMC Article
Voutetakis A
Handb Clin Neurol 2021;181:9-27. doi: 10.1016/B978-0-12-820683-6.00002-6. PMID: 34238482
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article
Dravet C
Epilepsia 2011 Apr;52 Suppl 2:3-9. doi: 10.1111/j.1528-1167.2011.02994.x. PMID: 21463272

Recent systematic reviews

Abu-Rumeileh S, Abdelhak A, Foschi M, Tumani H, Otto M
J Neurol 2021 Apr;268(4):1133-1170. Epub 2020 Aug 25 doi: 10.1007/s00415-020-10124-x. PMID: 32840686Free PMC Article
Gumaa M, Rehan Youssef A
Phys Ther 2019 Oct 28;99(10):1304-1325. doi: 10.1093/ptj/pzz093. PMID: 31343702
Smart KM, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Marjoribanks J, Brown J, O'Brien PM, Wyatt K
Cochrane Database Syst Rev 2013 Jun 7;2013(6):CD001396. doi: 10.1002/14651858.CD001396.pub3. PMID: 23744611Free PMC Article

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