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Broad toe

MedGen UID:
351283
Concept ID:
C1865038
Finding
Synonym: Broad toes
 
HPO: HP:0001837

Definition

Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. [from HPO]

Term Hierarchy

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.
Simpson-Golabi-Behmel syndrome type 1
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.
Syndactyly-polydactyly-ear lobe syndrome
MedGen UID:
348333
Concept ID:
C1861347
Disease or Syndrome
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.
Osebold-Remondini syndrome
MedGen UID:
350598
Concept ID:
C1862130
Disease or Syndrome
The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985). See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia.
Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
MedGen UID:
355893
Concept ID:
C1865022
Disease or Syndrome
Chromosome 6pter-p24 deletion syndrome
MedGen UID:
393396
Concept ID:
C2675486
Disease or Syndrome
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Autosomal dominant Robinow syndrome 1
MedGen UID:
1641736
Concept ID:
C4551475
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.
Autosomal recessive Robinow syndrome
MedGen UID:
1770070
Concept ID:
C5399974
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).
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).
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
MedGen UID:
1798903
Concept ID:
C5567480
Disease or Syndrome
Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).

Professional guidelines

PubMed

Colò G, Rava A, Samaila EM, Palazzolo A, Talesa G, Schiraldi M, Magnan B, Ferracini R, Felli L
Acta Biomed 2020 May 30;91(4-S):60-68. doi: 10.23750/abm.v91i4-S.9713. PMID: 32555077Free PMC Article

Recent clinical studies

Etiology

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J
Am J Med Genet A 2022 Sep;188(9):2536-2554. Epub 2022 Jun 21 doi: 10.1002/ajmg.a.62867. PMID: 35730128Free PMC Article
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T, Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas DA, Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra HJ, Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo D, Cui J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van Riel PL, van de Laar MA, Guchelaar HJ, Huizinga TW, Dieudé P, Mariette X, Bridges SL Jr, Zhernakova A, Toes RE, Tak PP, Miceli-Richard C, Bang SY, Lee HS, Martin J, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Rantapää-Dahlqvist S, Arlestig L, Choi HK, Kamatani Y, Galan P, Lathrop M; RACI consortium; GARNET consortium, Eyre S, Bowes J, Barton A, de Vries N, Moreland LW, Criswell LA, Karlson EW, Taniguchi A, Yamada R, Kubo M, Liu JS, Bae SC, Worthington J, Padyukov L, Klareskog L, Gregersen PK, Raychaudhuri S, Stranger BE, De Jager PL, Franke L, Visscher PM, Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H, Behrens TW, Siminovitch KA, Momohara S, Matsuda F, Yamamoto K, Plenge RM
Nature 2014 Feb 20;506(7488):376-81. Epub 2013 Dec 25 doi: 10.1038/nature12873. PMID: 24390342Free PMC Article
Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, Kuhlwilm M, Lachmann M, Meyer M, Ongyerth M, Siebauer M, Theunert C, Tandon A, Moorjani P, Pickrell J, Mullikin JC, Vohr SH, Green RE, Hellmann I, Johnson PL, Blanche H, Cann H, Kitzman JO, Shendure J, Eichler EE, Lein ES, Bakken TE, Golovanova LV, Doronichev VB, Shunkov MV, Derevianko AP, Viola B, Slatkin M, Reich D, Kelso J, Pääbo S
Nature 2014 Jan 2;505(7481):43-9. Epub 2013 Dec 18 doi: 10.1038/nature12886. PMID: 24352235Free PMC Article

Diagnosis

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2023;13:8. Epub 2023 Mar 28 doi: 10.5334/tohm.758. PMID: 37008994Free PMC Article
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Vogels A, Fryns JP
Orphanet J Rare Dis 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. PMID: 16740155Free PMC Article
Benner SA, Sismour AM
Nat Rev Genet 2005 Jul;6(7):533-43. doi: 10.1038/nrg1637. PMID: 15995697Free PMC Article

Therapy

Friberg JE, Qazi AH, Boyle B, Franciscus C, Vaughan-Sarrazin M, Westerman D, Patterson OV, Parr SK, Matheny ME, Arya S, Smolderen KG, Lund BC, Gobbel GT, Girotra S
Circ Cardiovasc Interv 2022 Mar;15(3):e011092. Epub 2022 Feb 18 doi: 10.1161/CIRCINTERVENTIONS.121.011092. PMID: 35176872Free PMC Article
Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H
Neuromolecular Med 2014 Mar;16(1):16-24. Epub 2014 Jan 1 doi: 10.1007/s12017-013-8285-3. PMID: 24381114Free PMC Article
DaCambra MP, Gupta SK, Ferri-de-Barros F
Clin Orthop Relat Res 2014 Apr;472(4):1251-9. Epub 2013 Oct 22 doi: 10.1007/s11999-013-3345-4. PMID: 24146360Free PMC Article
van Tulder M, Peul W, Koes B
Nat Rev Rheumatol 2010 Mar;6(3):139-45. Epub 2010 Feb 9 doi: 10.1038/nrrheum.2010.3. PMID: 20142811
Rigopoulos D, Larios G, Gregoriou S, Alevizos A
Am Fam Physician 2008 Feb 1;77(3):339-46. PMID: 18297959

Prognosis

Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2023;13:8. Epub 2023 Mar 28 doi: 10.5334/tohm.758. PMID: 37008994Free PMC Article
Cuenca-Garcia M, Marin-Jimenez N, Perez-Bey A, Sánchez-Oliva D, Camiletti-Moiron D, Alvarez-Gallardo IC, Ortega FB, Castro-Piñero J
Sports Med 2022 Aug;52(8):1961-1979. Epub 2022 Jan 22 doi: 10.1007/s40279-021-01635-2. PMID: 35064915
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
van Tulder M, Peul W, Koes B
Nat Rev Rheumatol 2010 Mar;6(3):139-45. Epub 2010 Feb 9 doi: 10.1038/nrrheum.2010.3. PMID: 20142811
Rigopoulos D, Larios G, Gregoriou S, Alevizos A
Am Fam Physician 2008 Feb 1;77(3):339-46. PMID: 18297959

Clinical prediction guides

Friberg JE, Qazi AH, Boyle B, Franciscus C, Vaughan-Sarrazin M, Westerman D, Patterson OV, Parr SK, Matheny ME, Arya S, Smolderen KG, Lund BC, Gobbel GT, Girotra S
Circ Cardiovasc Interv 2022 Mar;15(3):e011092. Epub 2022 Feb 18 doi: 10.1161/CIRCINTERVENTIONS.121.011092. PMID: 35176872Free PMC Article
Cuenca-Garcia M, Marin-Jimenez N, Perez-Bey A, Sánchez-Oliva D, Camiletti-Moiron D, Alvarez-Gallardo IC, Ortega FB, Castro-Piñero J
Sports Med 2022 Aug;52(8):1961-1979. Epub 2022 Jan 22 doi: 10.1007/s40279-021-01635-2. PMID: 35064915
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM
Genet Med 2020 Aug;22(8):1338-1347. Epub 2020 May 19 doi: 10.1038/s41436-020-0811-8. PMID: 32424177Free PMC Article
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article
McClelland MM, Cameron CE
New Dir Child Adolesc Dev 2011 Fall;2011(133):29-44. doi: 10.1002/cd.302. PMID: 21898897

Recent systematic reviews

Donne JH, Powell JA, Fahey MC, Beare R, Kolic J, Williams CM
Acta Paediatr 2023 Aug;112(8):1620-1632. Epub 2023 May 23 doi: 10.1111/apa.16821. PMID: 37161850
Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J
Am J Med Genet A 2022 Sep;188(9):2536-2554. Epub 2022 Jun 21 doi: 10.1002/ajmg.a.62867. PMID: 35730128Free PMC Article
Cuenca-Garcia M, Marin-Jimenez N, Perez-Bey A, Sánchez-Oliva D, Camiletti-Moiron D, Alvarez-Gallardo IC, Ortega FB, Castro-Piñero J
Sports Med 2022 Aug;52(8):1961-1979. Epub 2022 Jan 22 doi: 10.1007/s40279-021-01635-2. PMID: 35064915
DaCambra MP, Gupta SK, Ferri-de-Barros F
Clin Orthop Relat Res 2014 Apr;472(4):1251-9. Epub 2013 Oct 22 doi: 10.1007/s11999-013-3345-4. PMID: 24146360Free PMC Article
de Lange-Brokaar BJ, Ioan-Facsinay A, van Osch GJ, Zuurmond AM, Schoones J, Toes RE, Huizinga TW, Kloppenburg M
Osteoarthritis Cartilage 2012 Dec;20(12):1484-99. Epub 2012 Sep 7 doi: 10.1016/j.joca.2012.08.027. PMID: 22960092

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