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Short proximal phalanx of thumb

MedGen UID:: 340786
•Concept ID:: C1855091
•: Finding

Synonyms:	Short proximal phalanges of thumb; Short proximal phalanges of thumbs

HPO:	HP:0009638

Definition

Hypoplastic (short) 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

CROGVShort proximal phalanx of thumb

Aplasia/hypoplasia involving bones of the upper limbs
- Aplasia/hypoplasia involving bones of the hand
  - Aplasia/Hypoplasia of fingers
    - Aplasia/Hypoplasia of the thumb
      - Short thumb
        Short phalanx of the thumb
        Short proximal phalanx of thumb

Conditions with this feature

Acrocapitofemoral dysplasia

MedGen UID:: 334681
•Concept ID:: C1843096
•: Disease or Syndrome

Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).

See: Condition Record

Brachydactyly type A1

MedGen UID:: 354673
•Concept ID:: C1862151
•: Disease or Syndrome

A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.

See: Condition Record

Brachydactyly type A1D

MedGen UID:: 903193
•Concept ID:: C4225183
•: Disease or Syndrome

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.

See: Condition Record

Acrocapitofemoral dysplasia

Brachydactyly type A1

Brachydactyly type A1D

Professional guidelines

PubMed

Physeal and periphyseal injuries of the hand. Patterns of injury and results of treatment.

Fischer MD, McElfresh EC
Hand Clin 1994 May;10(2):287-301. PMID: 8040207

See all (1)

Recent clinical studies

Etiology

Open-wedge osteotomy for thumb radial angulation in Apert syndrome using a bone-graft substitute.

Shintani K, Kazuki K, Nakagawa K, Hosomi R, Kitano T
J Pediatr Orthop B 2022 Sep 1;31(5):500-504. Epub 2021 Dec 2 doi: 10.1097/BPB.0000000000000938. PMID: 35438886

Lengths, girths, and diameters of children's fingers from 3 to 10 years of age.

Hohendorff B, Weidermann C, Burkhart KJ, Rommens PM, Prommersberger KJ, Konerding MA
Ann Anat 2010 May 20;192(3):156-61. Epub 2010 Apr 3 doi: 10.1016/j.aanat.2010.03.002. PMID: 20399088

Long-term results following osteotomy of the thumb delta phalanx in Rubinstein-Taybi Syndrome.

Jain A, Rehman S, Smith G
J Hand Surg Eur Vol 2010 May;35(4):296-301. Epub 2009 Dec 23 doi: 10.1177/1753193409354523. PMID: 20031997

Physeal and periphyseal injuries of the hand. Patterns of injury and results of treatment.

Fischer MD, McElfresh EC
Hand Clin 1994 May;10(2):287-301. PMID: 8040207

The anatomy and management of the thumb in Apert syndrome.

Fereshetian S, Upton J
Clin Plast Surg 1991 Apr;18(2):365-80. PMID: 2065494

See all (13)

Diagnosis

Thumb Metacarpophalangeal Joint Ulnar Collateral Ligament Injuries: Management and Biomechanical Evaluation.

Chang AL, Merkow DB, Bookman JS, Glickel SZ
J Am Acad Orthop Surg 2023 Jan 1;31(1):7-16. doi: 10.5435/JAAOS-D-22-00112. PMID: 36548149

Percutaneous Distraction Pinning for Metacarpophalangeal Joint Stabilization After Blast or Crush Injuries of the Hand.

Langford MA, Cheung K, Li Z
Clin Orthop Relat Res 2015 Sep;473(9):2785-9. doi: 10.1007/s11999-015-4233-x. PMID: 25754757 Free PMC Article

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

Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome.

Hennekam RC, Van Den Boogaard MJ, Dijkstra PF, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:48-50. doi: 10.1002/ajmg.1320370608. PMID: 2118778

See all (5)

Therapy

Percutaneous Distraction Pinning for Metacarpophalangeal Joint Stabilization After Blast or Crush Injuries of the Hand.

Langford MA, Cheung K, Li Z
Clin Orthop Relat Res 2015 Sep;473(9):2785-9. doi: 10.1007/s11999-015-4233-x. PMID: 25754757 Free PMC Article

Biomechanical evaluation of thumb opposition transfer insertion sites.

Roach SS, Short WH, Werner FW, Fortino MD
J Hand Surg Am 2001 Mar;26(2):354-61. doi: 10.1053/jhsu.2001.20965. PMID: 11279584

See all (2)

Prognosis

On-top plasty using a free metacarpal head graft for lengthening of proximal phalanx in symbrachydactyly--a case report.

Iba K, Wada T, Yamashita T
Hand Surg 2013;18(2):273-5. doi: 10.1142/S0218810413720192. PMID: 24164137

Distraction lengthening by callotasis of traumatically shortened bones of the hand.

Hosny GA, Kandel WA
J Trauma Acute Care Surg 2012 Jun;72(6):1676-80. doi: 10.1097/TA.0b013e31824b177a. PMID: 22695440

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

The bipolar lengthening technique: a modified partial toe transfer for thumb reconstruction.

Foucher G, Chabaud M
Plast Reconstr Surg 1998 Nov;102(6):1981-7. doi: 10.1097/00006534-199811000-00026. PMID: 9810994

Evidence from the use of vibration that the human long-latency stretch reflex depends upon spindle secondary afferents.

Matthews PB
J Physiol 1984 Mar;348:383-415. doi: 10.1113/jphysiol.1984.sp015116. PMID: 6232375 Free PMC Article

See all (5)

Clinical prediction guides

New Developments Are Improving Flexor Tendon Repair.

Tang JB
Plast Reconstr Surg 2018 Jun;141(6):1427-1437. doi: 10.1097/PRS.0000000000004416. PMID: 29579022

Percutaneous Distraction Pinning for Metacarpophalangeal Joint Stabilization After Blast or Crush Injuries of the Hand.

Langford MA, Cheung K, Li Z
Clin Orthop Relat Res 2015 Sep;473(9):2785-9. doi: 10.1007/s11999-015-4233-x. PMID: 25754757 Free PMC Article

Lengths, girths, and diameters of children's fingers from 3 to 10 years of age.

Hohendorff B, Weidermann C, Burkhart KJ, Rommens PM, Prommersberger KJ, Konerding MA
Ann Anat 2010 May 20;192(3):156-61. Epub 2010 Apr 3 doi: 10.1016/j.aanat.2010.03.002. PMID: 20399088

Results of osteotomy, open reduction, and internal fixation for late-presenting malunited intra-articular fractures of the base of the middle phalanx.

Del Piñal F, García-Bernal FJ, Delgado J, Sanmartín M, Regalado J
J Hand Surg Am 2005 Sep;30(5):1039.e1-1039.e14. doi: 10.1016/j.jhsa.2005.03.018. PMID: 16182065

The anatomy and management of the thumb in Apert syndrome.

Fereshetian S, Upton J
Clin Plast Surg 1991 Apr;18(2):365-80. PMID: 2065494

See all (7)

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Short proximal phalanx of thumb

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

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