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Broad phalanx

MedGen UID:
340809
Concept ID:
C1855185
Finding
Synonyms: Broad phalanges; Widened phalanges
 
HPO: HP:0006009

Definition

Increased side-to-side width of one or more phalanges of the fingers or toes. [from HPO]

Conditions with this feature

Familial osteoarthropathy of the fingers
MedGen UID:
82674
Concept ID:
C0264081
Disease or Syndrome
Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003).
Osteoglophonic dysplasia
MedGen UID:
96592
Concept ID:
C0432283
Congenital Abnormality
Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by White et al., 2005).
X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
MedGen UID:
344437
Concept ID:
C1855175
Disease or Syndrome
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
Acromesomelic dysplasia 1, Maroteaux type
MedGen UID:
355199
Concept ID:
C1864356
Disease or Syndrome
The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Acromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000). Genetic Heterogeneity of Acromesomelic Dysplasia Additional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A (200700), -2B (228900), and -2C (201250), all caused by mutation in the GDF5 gene (601146) on chromosome 20q11; AMD3 (200700), caused by mutation in the BMPR1B gene (603248) on chromosome 4q22; and AMD4 (619636), caused by mutation in the PRKG2 gene (601591) on chromosome 4q21. An autosomal dominant form of acromesomelic dysplasia has also been reported (see 112910).
Smith-McCort dysplasia 2
MedGen UID:
811489
Concept ID:
C3714896
Disease or Syndrome
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326).
Heyn-Sproul-Jackson syndrome
MedGen UID:
1684743
Concept ID:
C5231475
Disease or Syndrome
Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and global developmental delay (Heyn et al., 2019).
Acromesomelic dysplasia 4
MedGen UID:
1794238
Concept ID:
C5562028
Disease or Syndrome
Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).

Professional guidelines

PubMed

Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article

Recent clinical studies

Etiology

Mateen S, Kwaadu KY, Ali S
Skeletal Radiol 2022 Jun;51(6):1143-1151. Epub 2021 Oct 26 doi: 10.1007/s00256-021-03946-x. PMID: 34704114
Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Colò G, Fusini F, Samaila EM, Rava A, Felli L, Alessio-Mazzola M, Magnan B
Acta Biomed 2020 Dec 30;91(14-S):e2020016. doi: 10.23750/abm.v91i14-S.10969. PMID: 33559617Free PMC Article
Cotterell IH, Richard MJ
Clin Sports Med 2015 Jan;34(1):69-98. Epub 2014 Nov 25 doi: 10.1016/j.csm.2014.09.009. PMID: 25455397
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

Mateen S, Kwaadu KY, Ali S
Skeletal Radiol 2022 Jun;51(6):1143-1151. Epub 2021 Oct 26 doi: 10.1007/s00256-021-03946-x. PMID: 34704114
Zlotolow DA, Kozin SH
Clin Sports Med 2020 Apr;39(2):457-479. doi: 10.1016/j.csm.2020.01.001. PMID: 32115094
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Blazar PE, Steinberg DR
J Am Acad Orthop Surg 2000 Nov-Dec;8(6):383-90. doi: 10.5435/00124635-200011000-00006. PMID: 11104402
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

Therapy

Berkowitz T, Goldsmith MP
Pediatr Emerg Care 2017 Apr;33(4):258-259. doi: 10.1097/PEC.0000000000000692. PMID: 27055169
Cotterell IH, Richard MJ
Clin Sports Med 2015 Jan;34(1):69-98. Epub 2014 Nov 25 doi: 10.1016/j.csm.2014.09.009. PMID: 25455397
Lee CK, Chang CC, Johar A, Puwira O, Roshidah B
JAMA Dermatol 2013 Mar;149(3):295-9. doi: 10.1001/jamadermatol.2013.1425. PMID: 23682364
Lim KB, Tey IK, Lokino ES, Yap RT, Tawng DK
J Pediatr Orthop 2010 Jul-Aug;30(5):414-9. doi: 10.1097/BPO.0b013e3181df1546. PMID: 20574255
Baumhauer JF, DiGiovanni BF
Foot Ankle Clin 2003 Mar;8(1):37-48, viii. doi: 10.1016/s1083-7515(02)00129-8. PMID: 12760573

Prognosis

Colò G, Fusini F, Samaila EM, Rava A, Felli L, Alessio-Mazzola M, Magnan B
Acta Biomed 2020 Dec 30;91(14-S):e2020016. doi: 10.23750/abm.v91i14-S.10969. PMID: 33559617Free PMC Article
Murali CN, Keena B, Zackai EH
Clin Dysmorphol 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. PMID: 29864040Free PMC Article
Cotterell IH, Richard MJ
Clin Sports Med 2015 Jan;34(1):69-98. Epub 2014 Nov 25 doi: 10.1016/j.csm.2014.09.009. PMID: 25455397
Lim KB, Tey IK, Lokino ES, Yap RT, Tawng DK
J Pediatr Orthop 2010 Jul-Aug;30(5):414-9. doi: 10.1097/BPO.0b013e3181df1546. PMID: 20574255
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

Clinical prediction guides

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Lee CK, Chang CC, Johar A, Puwira O, Roshidah B
JAMA Dermatol 2013 Mar;149(3):295-9. doi: 10.1001/jamadermatol.2013.1425. PMID: 23682364
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
Blazar PE, Steinberg DR
J Am Acad Orthop Surg 2000 Nov-Dec;8(6):383-90. doi: 10.5435/00124635-200011000-00006. PMID: 11104402
Smith SL
Am J Phys Anthropol 2000 Nov;113(3):329-48. doi: 10.1002/1096-8644(200011)113:3<329::AID-AJPA5>3.0.CO;2-B. PMID: 11042536

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