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3-4 toe cutaneous syndactyly

MedGen UID:
1052578
Concept ID:
CN377480
Finding
HPO: HP:6000648

Definition

A soft tissue continuity in the anteroposterior axis between the toes 3 and 4. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV3-4 toe cutaneous syndactyly

Conditions with this feature

Pfeiffer syndrome
MedGen UID:
67390
Concept ID:
C0220658
Disease or Syndrome
Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

Recent clinical studies

Diagnosis

Miller KR, Mühlhaus K, Herbst RA, Bohnhorst B, Böhmer S, Arslan-Kirchner M
Am J Med Genet 2001 Apr 22;100(2):103-5. PMID: 11298369

Clinical prediction guides

Miller KR, Mühlhaus K, Herbst RA, Bohnhorst B, Böhmer S, Arslan-Kirchner M
Am J Med Genet 2001 Apr 22;100(2):103-5. PMID: 11298369

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