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Duplication of phalanx of hallux

MedGen UID:
395424
Concept ID:
C1860164
Congenital Abnormality; Finding
Synonyms: Duplicated halluces; Duplicated hallux; Hallucal duplication
 
HPO: HP:0010066

Definition

Partial or complete duplication of one or more phalanx of big toe. [from HPO]

Conditions with this feature

Acrocallosal syndrome
MedGen UID:
162915
Concept ID:
C0796147
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Polysyndactyly-cardiac malformation syndrome
MedGen UID:
337895
Concept ID:
C1849719
Congenital Abnormality
Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).
Baraitser-Winter syndrome 1
MedGen UID:
340943
Concept ID:
C1855722
Disease or Syndrome
Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.
Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.
Polydactyly of a triphalangeal thumb
MedGen UID:
357423
Concept ID:
C1868114
Congenital Abnormality
Preaxial polydactyly II (PPD2) is a limb malformation in which duplication, full or partial, of the first digital ray of hands or feet results in extra digits. Triphalangeal thumb is characterized by the presence of 3 phalanges within the thumb. The extra middle phalanx may be fully formed, trapezoidal, or a small triangular 'delta' phalanx; the thumb may be opposable or nonopposable. Preaxial polydactyly and triphalangeal thumb may cosegregate, or each occur in isolation, within families with mutation in the zone of polarizing activity (ZPA) regulatory sequence (ZRS), a regulatory element for the SHH gene (600725) that is contained within intron 5 of the LMBR1 gene (Heutink et al., 1994; Furniss et al., 2008; VanderMeer et al., 2014).
Orofaciodigital syndrome XV
MedGen UID:
934668
Concept ID:
C4310701
Disease or Syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.

Recent clinical studies

Etiology

Turra S, Gigante C, Bisinella G
J Pediatr Orthop B 2007 May;16(3):216-20. doi: 10.1097/01.bpb.0000192055.60435.31. PMID: 17414786
Trusen A, Beissert M, Collmann H, Darge K
Pediatr Radiol 2003 Mar;33(3):168-72. Epub 2002 Nov 12 doi: 10.1007/s00247-002-0823-3. PMID: 12612814
Phelps DA, Grogan DP
J Pediatr Orthop 1985 Jul-Aug;5(4):446-51. doi: 10.1097/01241398-198507000-00012. PMID: 4019759
Young ID, Harper PS
J Med Genet 1982 Aug;19(4):286-8. doi: 10.1136/jmg.19.4.286. PMID: 7120317Free PMC Article

Diagnosis

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679
Trusen A, Beissert M, Collmann H, Darge K
Pediatr Radiol 2003 Mar;33(3):168-72. Epub 2002 Nov 12 doi: 10.1007/s00247-002-0823-3. PMID: 12612814

Prognosis

Turra S, Gigante C, Bisinella G
J Pediatr Orthop B 2007 May;16(3):216-20. doi: 10.1097/01.bpb.0000192055.60435.31. PMID: 17414786
Trusen A, Beissert M, Collmann H, Darge K
Pediatr Radiol 2003 Mar;33(3):168-72. Epub 2002 Nov 12 doi: 10.1007/s00247-002-0823-3. PMID: 12612814
Phelps DA, Grogan DP
J Pediatr Orthop 1985 Jul-Aug;5(4):446-51. doi: 10.1097/01241398-198507000-00012. PMID: 4019759
Young ID, Harper PS
J Med Genet 1982 Aug;19(4):286-8. doi: 10.1136/jmg.19.4.286. PMID: 7120317Free PMC Article
Venn-Watson EA
Orthop Clin North Am 1976 Oct;7(4):909-27. PMID: 185565

Clinical prediction guides

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679

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