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Abnormal distal phalanx morphology of finger

MedGen UID:: 867027
•Concept ID:: C4021385
•: Anatomical Abnormality

Synonyms:	Abnormal terminal phalanges of the hand; Abnormality of the distal phalanges of the hand; Abnormality of the distal phalanx of finger; Abnormality of the outermost finger bone

HPO:	HP:0009832

Definition

Any anomaly of distal phalanx of finger. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal distal phalanx morphology of finger

Abnormality of limbs
- Abnormality of limb bone
  - Abnormal limb bone morphology
    - Abnormal digit morphology
      - Abnormal finger morphology
        Abnormal finger phalanx morphology
        Abnormal distal phalanx morphology of finger
        Abnormality of the epiphyses of the distal phalanx of finger
        Abnormality of the epiphysis of the distal phalanx of the 2nd finger
        Abnormality of the epiphysis of the distal phalanx of the 3rd finger
        Abnormality of the epiphysis of the distal phalanx of the 4th finger
        Abnormality of the epiphysis of the distal phalanx of the 5th finger
        Abnormality of the epiphysis of the distal phalanx of the thumb
        Absent epiphyses of the distal phalanges of the hand
        Absent epiphysis of the distal phalanx of the 2nd finger
        Absent epiphysis of the distal phalanx of the 3rd finger
        Absent epiphysis of the distal phalanx of the 4th finger
        Absent epiphysis of the distal phalanx of the 5th finger
        Absent epiphysis of the distal phalanx of the thumb
        Bracket epiphyses of the distal phalanges of the hand
        Bracket epiphysis of the distal phalanx of the 2nd finger
        Bracket epiphysis of the distal phalanx of the 3rd finger
        Bracket epiphysis of the distal phalanx of the 4th finger
        Bracket epiphysis of the distal phalanx of the 5th finger
        Bracket epiphysis of the distal phalanx of the thumb
        Cone-shaped epiphyses of the distal phalanges of the hand
        Cone-shaped epiphysis of the distal phalanx of the 2nd finger
        Cone-shaped epiphysis of the distal phalanx of the 3rd finger
        Cone-shaped epiphysis of the distal phalanx of the 4th finger
        Cone-shaped epiphysis of the distal phalanx of the 5th finger
        Cone-shaped epiphysis of the distal phalanx of the thumb
        Enlarged epiphyses of the distal phalanges of the hand
        Enlarged epiphysis of the distal phalanx of the 2nd finger
        Enlarged epiphysis of the distal phalanx of the 3rd finger
        Enlarged epiphysis of the distal phalanx of the 4th finger
        Enlarged epiphysis of the distal phalanx of the 5th finger
        Enlarged epiphysis of the distal phalanx of the thumb
        Fragmentation of the epiphyses of the distal phalanges of the hand
        Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
        Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
        Fragmentation of the epiphysis of the distal phalanx of the 4th finger
        Fragmentation of the epiphysis of the distal phalanx of the 5th finger
        Fragmentation of the epiphysis of the distal phalanx of the thumb
        Irregular epiphyses of the distal phalanges of the hand
        Irregular epiphysis of the distal phalanx of the 2nd finger
        Irregular epiphysis of the distal phalanx of the 3rd finger
        Irregular epiphysis of the distal phalanx of the 4th finger
        Irregular epiphysis of the distal phalanx of the 5th finger
        Irregular epiphysis of the distal phalanx of the thumb
        Pseudoepiphyses of the distal phalanges of the hand
        Pseudoepiphysis of the distal phalanx of the 2nd finger
        Pseudoepiphysis of the distal phalanx of the 3rd finger
        Pseudoepiphysis of the distal phalanx of the 4th finger
        Pseudoepiphysis of the distal phalanx of the 5th finger
        Pseudoepiphysis of the distal phalanx of the thumb
        Small epiphyses of the distal phalanges of the hand
        Small epiphysis of the distal phalanx of the 2nd finger
        Small epiphysis of the distal phalanx of the 3rd finger
        Small epiphysis of the distal phalanx of the 4th finger
        Small epiphysis of the distal phalanx of the 5th finger
        Small epiphysis of the distal phalanx of the thumb
        Stippling of the epiphyses of the distal phalanges of the hand
        Stippling of the epiphysis of the distal phalanx of the 2nd finger
        Stippling of the epiphysis of the distal phalanx of the 3rd finger
        Stippling of the epiphysis of the distal phalanx of the 4th finger
        Stippling of the epiphysis of the distal phalanx of the 5th finger
        Stippling of the epiphysis of the distal phalanx of the thumb
        Triangular epiphyses of the distal phalanges of the hand
        Triangular epiphysis of the distal phalanx of the 2nd finger
        Triangular epiphysis of the distal phalanx of the 3rd finger
        Triangular epiphysis of the distal phalanx of the 4th finger
        Triangular epiphysis of the distal phalanx of the 5th finger
        Triangular epiphysis of the distal phalanx of the thumb
        Aplasia/Hypoplasia of the distal phalanges of the hand
        Absent distal phalanges
        Aplasia of the distal phalanges of the hand
        Aplasia of the distal phalanx of the 2nd finger
        Aplasia of the distal phalanx of the 3rd finger
        Aplasia of the distal phalanx of the 4th finger
        Aplasia of the distal phalanx of the 5th finger
        Aplasia of the distal phalanx of the thumb
        Short distal phalanx of finger
        Short distal phalanx of the 2nd finger
        Short distal phalanx of the 3rd finger
        Short distal phalanx of the 4th finger
        Short distal phalanx of the 5th finger
        Short distal phalanx of the thumb
        Shortening of all distal phalanges of the fingers
        Broad distal phalanx of finger
        Broad distal phalanges of all fingers
        Broad distal phalanx of the 2nd finger
        Broad distal phalanx of the 3rd finger
        Broad distal phalanx of the 4th finger
        Broad distal phalanx of the 5th finger
        Bullet-shaped distal phalanges of the hand
        Bullet-shaped distal phalanx of the 2nd finger
        Bullet-shaped distal phalanx of the 3rd finger
        Bullet-shaped distal phalanx of the 4th finger
        Bullet-shaped distal phalanx of the 5th finger
        Bullet-shaped distal phalanx of the thumb
        Chess-pawn distal phalanges
        Curved distal phalanges of the hand
        Curved distal phalanx of the 2nd finger
        Curved distal phalanx of the 3rd finger
        Curved distal phalanx of the 4th finger
        Curved distal phalanx of the 5th finger
        Curved distal phalanx of the thumb
        Drumstick terminal phalanges
        Long distal phalanx of finger
        Osteolytic defects of the distal phalanges of the hand
        Osteolytic defect of the distal phalanx of the thumb
        Osteolytic defects of the distal phalanx of the 2nd finger
        Osteolytic defects of the distal phalanx of the 3rd finger
        Osteolytic defects of the distal phalanx of the 4th finger
        Osteolytic defects of the distal phalanx of the 5th finger
        Slender distal phalanx of finger
        Tapered distal phalanges of finger
        Tapering pointed ends of distal finger phalanges
        Triangular shaped distal phalanges of the hand
        Triangular shaped distal phalanx of the 2nd finger
        Triangular shaped distal phalanx of the 3rd finger
        Triangular shaped distal phalanx of the 4th finger
        Triangular shaped distal phalanx of the 5th finger
        Rhomboid or triangular shaped 5th finger distal phalanx
        Triangular shaped distal phalanx of the thumb

Professional guidelines

PubMed

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A
Am J Med Genet A 2016 Jan;170A(1):77-86. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37369. PMID: 26394714 Free PMC Article

Opposable triphalangeal thumb: clinical features and results of treatment.

Ogino T, Ishii S, Kato H
J Hand Surg Am 1994 Jan;19(1):39-47. doi: 10.1016/0363-5023(94)90222-4. PMID: 8169367

The hand profile on de Lange syndrome: diagnostic criteria.

Halal F, Preus M
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Recent clinical studies

Etiology

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

Outcome of two types of surgical correction of the extra phalanx in triphalangeal thumb: is there a difference?

Zuidam JM, Selles RW, de Kraker M, Hovius SE
J Hand Surg Eur Vol 2016 Mar;41(3):253-7. Epub 2015 Mar 20 doi: 10.1177/1753193415576459. PMID: 25794887

The pathogenesis of Kirner's deformity: A clinical, radiological and histological study.

Fairbank SM, Rozen WM, Coombs CJ
J Hand Surg Eur Vol 2015 Jul;40(6):633-7. Epub 2014 Sep 30 doi: 10.1177/1753193414551911. PMID: 25274771

Characteristic radiographic features of the central ray in Apert syndrome.

Kim JH, Rhee SH, Gong HS, Lee HJ, Kwon ST, Baek GH
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Diagnosis

Hypothesis: Symbrachydactyly.

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773

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

Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy.

Chen X, Zou CC, Dong GP, Liang L, Zhao ZY
Ir J Med Sci 2012 Jun;181(2):257-61. Epub 2009 May 9 doi: 10.1007/s11845-009-0346-0. PMID: 19430868

Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.

Miller SF
Pediatr Radiol 2003 Mar;33(3):186-9. Epub 2002 Dec 19 doi: 10.1007/s00247-002-0846-9. PMID: 12612818

Brachymorphism-onychodysplasia-dysphalangism syndrome.

Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L
J Med Genet 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158. PMID: 8445623 Free PMC Article

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Therapy

Standardized protocol for artery-only fingertip replantation.

Buntic RF, Brooks D
J Hand Surg Am 2010 Sep;35(9):1491-6. doi: 10.1016/j.jhsa.2010.06.004. PMID: 20807626

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP
J Med Genet 2007 Feb;44(2):89-98. Epub 2006 Jun 26 doi: 10.1136/jmg.2006.043687. PMID: 16801345 Free PMC Article

Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).

Rott HD, Krieg P, Rütschle H, Kraus C
Genet Couns 2003;14(3):281-8. PMID: 14577672

Stability and constraint of the proximal interphalangeal joint.

Minamikawa Y, Horii E, Amadio PC, Cooney WP, Linscheid RL, An KN
J Hand Surg Am 1993 Mar;18(2):198-204. doi: 10.1016/0363-5023(93)90345-4. PMID: 8463578

Pseudohyperphalangism in fetal Dilantin syndrome.

Wood BP, Young LW
Radiology 1979 May;131(2):371-2. doi: 10.1148/131.2.371. PMID: 441322

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Prognosis

Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly.

Saito S, Makino A, Yamanaka H, Tsuge I, Morimoto N
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Ultrasonography could be used to predict extended insertion of the EPB tendon noninvasively.

Sugiura S, Matsuura Y, Suzuki T, Nishikawa S, Mori C, Toyooka T, Kuniyoshi K, Ohtori S
Surg Radiol Anat 2018 Sep;40(9):995-999. Epub 2018 Jun 8 doi: 10.1007/s00276-018-2049-6. PMID: 29948040

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

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Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M
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Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC
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Clinical prediction guides

Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly.

Saito S, Makino A, Yamanaka H, Tsuge I, Morimoto N
J Hand Surg Eur Vol 2023 Jan;48(1):10-19. Epub 2022 Oct 6 doi: 10.1177/17531934221126864. PMID: 36204982

Modified Bilhaut-Cloquet Procedure for the Reconstruction of Wassel Type III Radial Polydactyly.

Du Z, Qiu X, Han D, Jiang H
J Pediatr Orthop 2022 Jul 1;42(6):e636-e640. Epub 2022 Mar 14 doi: 10.1097/BPO.0000000000002139. PMID: 35275893

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
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Reconstruction for Type IV Radial Polydactyly.

Wall LB, Goldfarb CA
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The pathogenesis of Kirner's deformity: A clinical, radiological and histological study.

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Abnormal distal phalanx morphology of finger

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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