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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.
See: This record
Unknown inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Abnormal cardiac septum morphology
MedGen UID:
1830392
•Concept ID:
C5779791
•
Anatomical Abnormality
An anomaly of the intra-atrial or intraventricular septum.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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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

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Primary Membranous Nephropathy.
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Recent clinical studies

Etiology

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Diagnosis

Genetics of patella hypoplasia/agenesis.
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Therapy

Delayed pubarche.
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J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.
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Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.
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Prognosis

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Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.
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Transient global amnesia.
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Acta Biomed 2014 Dec 17;85(3):229-35. PMID: 25567459
Neuroacanthocytosis syndromes.
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Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article

Clinical prediction guides

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
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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
Succinate dehydrogenase (SDH)-deficient neoplasia.
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
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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

Recent systematic reviews

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Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.
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
Selective serotonin reuptake inhibitors for premenstrual syndrome.
Marjoribanks J, Brown J, O'Brien PM, Wyatt K
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