Tibial Aplasia-Electrodactyly Syndrome

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Classification according to ICD-10
Q73.8 Other reduction defects of unspecified extremity (s)
ICD-10 online (WHO version 2019)

The tibial aplasia ectrodactyly syndrome is a very rare congenital disease with a combination of ectrodactyly and tibial hemimelia .

Synonyms are: tibial aplasia - ectrodactyly; English Tibial aplasia - ectrodactyly; SHFLD syndrome, acronym for S plit- H and / F oot malformation with L ong bone D eficiency

distribution

The frequency is given as 1 - 9 in 1,000,000, inheritance is mostly autosomal dominant , rarely autosomal - recessive .

root cause

Depending on the underlying genetic change, the following forms can be distinguished:

  • Type 1: SPLIT-HAND / FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 (SHFLD1), synonym: SPLIT-HAND / FOOT MALFORMATION WITH LONG BONE DEFICIENCY; SHFLD; CLEFT HAND AND ABSENT TIBIA; APLASIA OF TIBIA WITH ECTRODACTYLY; TIBIAL APLASIA WITH SPLIT-HAND / SPLIT-FOOT DEFORMITY; ECTRODACTYLY WITH APLASIA OF LONG BONES, mutations at locus 1q42.2-q43
  • Type 2: SPLIT-HAND / FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2 (SHFLD2), mutations in 6q14.1
  • Type 3: SPLIT-HAND / FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3 (SHFLD3), synonyms: CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME, mutations on 17p13.3-p13.1

Clinical manifestations

The clinical spectrum of this malformation syndrome ranges from merely hypoplastic big toes to tibial aplasia with split hand and split foot deformity, so-called tetramonodactyly.

In addition, there may be hypoplasia of the thigh bone , ulna , aplasia of the patella, or polydactyly .

Differential diagnosis

The Gollop-Wolfgang syndrome is to be distinguished .

history

On the history of the discovery of the syndrome: quoted from F. Majewski and colleagues

The syndrome was described in 1967 by JAF Roberts .

The first description probably comes from Otto in 1850, reports G. Joachimsthal . The familial occurrence was described by WH White et al in 1888.

literature

  • CM Armor, DE Bulman, O. Jarinova, RC Rogers, KB Clarkson, BR DuPont, A. Dwivedi, FO Bartel, L. McDonell, CE Schwartz, KM Boycott, DB Everman, GE Graham: 17p13.3 microduplications are associated with split -hand / foot malformation and long-bone deficiency (SHFLD). In: European journal of human genetics: EJHG. Vol. 19, No. 11, November 2011, pp. 1144–1151, doi: 10.1038 / ejhg.2011.97 , PMID 21629300 , PMC 3198152 (free full text).
  • R. Dayer, D. Ceroni, A. Bottani, A. Kaelin: Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype. In: Journal of pediatric orthopedics. Vol. 27, No. 3, 2007 Apr-May, pp. 266-269, doi: 10.1097 / BPO.0b013e3180340d6c , PMID 17414007 .

Individual evidence

  1. ↑ a b Tibial Aplasia-Ectrodactyly Syndrome. In: Orphanet (Rare Disease Database).
  2. ^ Split-hand / foot malformation with long bone deficiency 1.  In: Online Mendelian Inheritance in Man . (English)
  3. ^ Split-hand / foot malformation with long bone deficiency 2.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Split-hand / foot malformation with long bone deficiency 3.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ F. Majewski, W. Küster, B. ter Haar, T. Goecke: Aplasia of tibia with split-hand / split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. In: Human genetics. Vol. 70, No. 2, 1985, pp. 136-147, PMID 4007857 .
  6. ↑ JAF Roberts: Genetic Prognosis. An Introduction to Medical Genetics . London: Oxford Univ. Press (pub.) (4th ed.): 1967, pp. 253-280.
  7. ↑ G. Joachimsthal: About the congenital total defect of the tibia. In: Zeitschrift für Orthopopädie , Vol. 3, 1894, pp. 140-173.
  8. ^ WH White, H. Baker: Case of congenital deformity of femora, absence of tibiae, and malformation of the feet and hands. In: Transactions of the Clinical Society , London Vol. 21, 1888, pp. 295-297.

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