Mateusz Gładysz FESSH prep

FESSH prep Congenital hand Laterality and foot involvement, inheritance and penetrance of split hand/foot malformation, nubbins versus level of deficiency in symbrachydactyly and transverse deficiency, place of the atypical cleft hand, shared mechanism of cleft hand with central polydactyly and osseous syndactyly

Typical cleft hand versus symbrachydactyly

Last reviewed v1.0

FESSH-090Congenital hand●●○ intermediate

Regarding typical cleft hand (split-hand/foot malformation), symbrachydactyly and their differential diagnosis:

  1. 1.Typical cleft hand usually involves both hands and both feet, whereas symbrachydactyly is usually unilateral.

  2. 2.When split-hand/foot malformation is familial, it is mostly inherited as an autosomal dominant trait with complete penetrance.

  3. 3.In registry data, the level of deficiency weighed more heavily than the presence of nubbins in surgeons' diagnosis of symbrachydactyly rather than transverse deficiency.

  4. 4.The so-called atypical cleft hand has been grouped with transverse deficiency rather than with typical cleft hand.

  5. 5.Typical cleft hand is thought to arise by a mechanism unrelated to central polydactyly and osseous syndactyly.

FESSH marking: +1 per correct statement, 0 for blank, −1 for incorrect. Click the same TRUE/FALSE button twice to clear it.

Question ID
FESSH-090
First published
Last reviewed
Version
v1.0
Answer key and explanations — open after answering

  1. 1. Typical cleft hand usually involves both hands and both feet, whereas symbrachydactyly is usually unilateral.

    True

    Guero and Holder-Espinasse describe cleft hand (split-hand/foot malformation) as a sequence of central ray deficiencies, from minor shortening of the central digit to absence of several rays, usually involving both hands and feet. Symbrachydactyly, by contrast, is described as a unilateral malformation with failure of formation of the fingers and rudimentary digital nubbins.

    • Guero S, Holder-Espinasse M. Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot). J Hand Surg Eur Vol. 2019;44(1):80-87. PMID 30380990
    • Goodell PB, Bauer AS, Sierra FJA, James MA. Symbrachydactyly. Hand (N Y). 2016;11(3):262-270. PMID 27698626

  2. 2. When split-hand/foot malformation is familial, it is mostly inherited as an autosomal dominant trait with complete penetrance.

    False

    Inheritance is indeed mostly autosomal dominant, but with variable expressivity and reduced or incomplete penetrance; autosomal recessive and X-linked forms have been reported in only a few families. Sporadic cases arise from de novo mutations, deletions or duplications, and point mutations in TP63, WNT10B and DLX5 are known causes.

    • Guero S, Holder-Espinasse M. Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot). J Hand Surg Eur Vol. 2019;44(1):80-87. PMID 30380990
    • Sowińska-Seidler A, Socha M, Jamsheer A. Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet. 2014;55(1):105-15. PMID 24163146

  3. 3. In registry data, the level of deficiency weighed more heavily than the presence of nubbins in surgeons' diagnosis of symbrachydactyly rather than transverse deficiency.

    True

    Hu and colleagues reviewed 254 limbs from a congenital limb registry diagnosed as symbrachydactyly or transverse deficiency. Nubbins were present on 66% of limbs and were associated with a fourfold higher likelihood of a symbrachydactyly diagnosis, whereas a distal level of deficiency was associated with a 20-fold higher likelihood than a proximal one; the authors recommend describing both features.

    • Hu CH, Ray LJ, Bae DS, Goldfarb CA, James MA, Van Heest AE, et al.. Do Nails and Nubbins Matter? A Comparison of Symbrachydactyly and Transverse Deficiency Phenotypes. J Hand Surg Am. 2024;49(11):1136.e1-1136.e9. PMID 36933968

  4. 4. The so-called atypical cleft hand has been grouped with transverse deficiency rather than with typical cleft hand.

    True

    In Ogino's review of the mechanisms of congenital absence of digits, the sequence from brachysyndactyly, or the atypical cleft hand, to congenital amputation is regarded as equivalent to transverse deficiency, separate from the failure of ray induction that produces typical cleft hand. The review describes four different teratogenic mechanisms for absent digits, with radial and ulnar deficiencies and constriction ring syndrome arising by mechanisms of their own.

    • Ogino T. Clinical features and teratogenic mechanisms of congenital absence of digits. Dev Growth Differ. 2007;49(6):523-31. PMID 17555519

  5. 5. Typical cleft hand is thought to arise by a mechanism unrelated to central polydactyly and osseous syndactyly.

    False

    In rats, cleft hand, central polydactyly and osseous syndactyly were induced by the same treatment at the same developmental stage, and clinical and experimental radiographs suggest that cleft hand formation proceeds from osseous syndactylies and central polydactylies. Ogino attributes typical cleft hand to failure of induction of digital rays in the hand plate.

    • Ogino T. Clinical features and teratogenic mechanisms of congenital absence of digits. Dev Growth Differ. 2007;49(6):523-31. PMID 17555519