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Broad distal phalanges of all fingers

MedGen UID:
869745
Concept ID:
C4024174
Anatomical Abnormality
Synonym: Broad outermost hand bones
 
HPO: HP:0009880

Definition

Abnormally wide (broad) distal phalanx of finger of all fingers. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBroad distal phalanges of all fingers

Conditions with this feature

Cranioectodermal dysplasia 1
MedGen UID:
96586
Concept ID:
C0432235
Disease or Syndrome
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
Larsen-like syndrome, B3GAT3 type
MedGen UID:
480034
Concept ID:
C3278404
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.

Recent clinical studies

Etiology

Selvi F, Faquin WC, Michaelson MD, August M
J Oral Maxillofac Surg 2016 Jun;74(6):1286.e1-9. Epub 2016 Feb 13 doi: 10.1016/j.joms.2016.01.054. PMID: 26954558
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
Am J Med Genet A 2009 Aug;149A(8):1628-40. doi: 10.1002/ajmg.a.32956. PMID: 19606471

Diagnosis

Zlotolow DA, Kozin SH
Clin Sports Med 2020 Apr;39(2):457-479. doi: 10.1016/j.csm.2020.01.001. PMID: 32115094
Stomnaroska O, Danilovski D, Ivanovska S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):153-155. doi: 10.2478/prilozi-2018-0016. PMID: 29668474
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
Am J Med Genet A 2009 Aug;149A(8):1628-40. doi: 10.1002/ajmg.a.32956. PMID: 19606471
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: 8445623Free PMC Article
Armendares S, Salamanca F, Nava S, Ramirez S, Cantu JM
Ann Genet 1975 Jun;18(2):89-94. PMID: 1081370

Therapy

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: 16801345Free PMC Article
Yang TS, Chi CC, Tsai CJ, Chang MJ
Obstet Gynecol 1978 Dec;52(6):682-4. PMID: 733136

Prognosis

Baz-Redón N, Soler-Colomer L, Fernández-Cancio M, Benito-Sanz S, Garrido M, Moliné T, Clemente M, Camats-Tarruella N, Yeste D
Front Endocrinol (Lausanne) 2022;13:957969. Epub 2022 Oct 11 doi: 10.3389/fendo.2022.957969. PMID: 36303863Free PMC Article
Stomnaroska O, Danilovski D, Ivanovska S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):153-155. doi: 10.2478/prilozi-2018-0016. PMID: 29668474
Selvi F, Faquin WC, Michaelson MD, August M
J Oral Maxillofac Surg 2016 Jun;74(6):1286.e1-9. Epub 2016 Feb 13 doi: 10.1016/j.joms.2016.01.054. PMID: 26954558
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
Am J Med Genet A 2009 Aug;149A(8):1628-40. doi: 10.1002/ajmg.a.32956. PMID: 19606471
Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E
Pediatr Radiol 2006 Sep;36(9):970-3. Epub 2006 May 20 doi: 10.1007/s00247-006-0217-z. PMID: 16715218

Clinical prediction guides

Baz-Redón N, Soler-Colomer L, Fernández-Cancio M, Benito-Sanz S, Garrido M, Moliné T, Clemente M, Camats-Tarruella N, Yeste D
Front Endocrinol (Lausanne) 2022;13:957969. Epub 2022 Oct 11 doi: 10.3389/fendo.2022.957969. PMID: 36303863Free PMC Article
Stomnaroska O, Danilovski D, Ivanovska S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):153-155. doi: 10.2478/prilozi-2018-0016. PMID: 29668474
Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K
Am J Med Genet A 2014 Apr;164A(4):1035-40. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36381. PMID: 24458843
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: 16801345Free PMC Article
Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T
Am J Med Genet 1991 Nov 1;41(2):225-9. doi: 10.1002/ajmg.1320410219. PMID: 1785639

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