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Absent proximal phalanx of thumb

MedGen UID:: 867060
•Concept ID:: C4021418
•: Finding

Synonyms:	Absent innermost thumb bone; Absent ossification/absent proximal thumb phalanx; Aplasia of the proximal phalanx of the thumb

HPO:	HP:0009637

Definition

Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent proximal phalanx of thumb

Abnormal digit morphology
- Abnormal finger morphology
  - Abnormal finger phalanx morphology
    - Abnormal middle phalanx morphology of the hand
      - Aplasia/Hypoplasia of the middle phalanges of the hand
        Aplasia of the middle phalanx of the hand
        Absent proximal phalanx of thumb

Conditions with this feature

LADD syndrome 1

MedGen UID:: 1824096
•Concept ID:: C5774323
•: Disease or Syndrome

Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.

See: Condition Record

LADD syndrome 1

Recent clinical studies

Etiology

Quantifying Tenodesis Hand Function in Cervical Spinal Cord Injury: Implications for Function.

Pripotnev S, Bruce J, Novak CB, Kennedy CR, Fox IK
J Hand Surg Am 2023 Jul;48(7):700-710. Epub 2023 May 16 doi: 10.1016/j.jhsa.2023.04.004. PMID: 37191601

The anatomy of Wassel type IV-D thumb duplication.

He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434

Reappraisal of Clinical Deficits Following High Median Nerve Injuries.

Bertelli JA, Soldado F, Lehn VL, Ghizoni MF
J Hand Surg Am 2016 Jan;41(1):13-9. doi: 10.1016/j.jhsa.2015.10.022. PMID: 26710729

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

Thumb function and appearance in thrombocytopenia: absent radius syndrome.

Goldfarb CA, Wustrack R, Pratt JA, Mender A, Manske PR
J Hand Surg Am 2007 Feb;32(2):157-61. doi: 10.1016/j.jhsa.2006.10.019. PMID: 17275588

See all (6)

Diagnosis

Anatomical variations in the first extensor compartment: a cadaver study.

Xu H, Wu JX, Wang Q, Gao ZY
ANZ J Surg 2018 Sep;88(9):913-916. Epub 2018 Aug 17 doi: 10.1111/ans.14808. PMID: 30117658

The anatomy of Wassel type IV-D thumb duplication.

He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434

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

Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.

Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R
Am J Med Genet A 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440. PMID: 14679586

See all (4)

Prognosis

The anatomy of Wassel type IV-D thumb duplication.

He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434

Reappraisal of Clinical Deficits Following High Median Nerve Injuries.

Bertelli JA, Soldado F, Lehn VL, Ghizoni MF
J Hand Surg Am 2016 Jan;41(1):13-9. doi: 10.1016/j.jhsa.2015.10.022. PMID: 26710729

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

See all (3)

Clinical prediction guides

Quantifying Tenodesis Hand Function in Cervical Spinal Cord Injury: Implications for Function.

Pripotnev S, Bruce J, Novak CB, Kennedy CR, Fox IK
J Hand Surg Am 2023 Jul;48(7):700-710. Epub 2023 May 16 doi: 10.1016/j.jhsa.2023.04.004. PMID: 37191601

Clinical Examination of the Extensor Pollicis Brevis: Anatomical Study and Description of a Novel Clinical Sign.

Lonne M, Sparks DS, Stephan C, Wagels M, Berger A
J Hand Surg Asian Pac Vol 2018 Sep;23(3):330-335. doi: 10.1142/S2424835518500315. PMID: 30282550

Reappraisal of Clinical Deficits Following High Median Nerve Injuries.

Bertelli JA, Soldado F, Lehn VL, Ghizoni MF
J Hand Surg Am 2016 Jan;41(1):13-9. doi: 10.1016/j.jhsa.2015.10.022. PMID: 26710729

Anatomical variations of the hand extensors.

Abdel-Hamid GA, El-Beshbishy RA, Abdel Aal IH
Folia Morphol (Warsz) 2013 Aug;72(3):249-57. doi: 10.5603/fm.2013.0040. PMID: 24068687

See all (4)