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Duplication of the distal phalanx of the hallux

MedGen UID:
866982
Concept ID:
C4021339
Anatomical Abnormality
Synonyms: Duplication of the outermost bone of big toe; Partial/complete duplication of the distal phalanx of the hallux
 
HPO: HP:0010084

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDuplication of the distal phalanx of the hallux

Conditions with this feature

Robinow-Sorauf syndrome
MedGen UID:
356703
Concept ID:
C1867146
Disease or Syndrome
Robinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a variant of Saethre-Chotzen syndrome.\n\nThe signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild changes in the hands and feet, such as partial fusion of the skin between the second and third fingers on each hand and a broad or duplicated first (big) toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects.\n\nMost people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, rounded ears.\n\nSaethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Recent clinical studies

Etiology

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
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

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
Young ID, Harper PS
J Med Genet 1982 Aug;19(4):286-8. doi: 10.1136/jmg.19.4.286. PMID: 7120317Free PMC Article

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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