Aphalangy-syndactyly-microcephaly syndrome

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Aphalangy-syndactyly-microcephaly syndrome
Autosomal dominant - en.svg
Specialty Medical genetics
Preventionnone
Prognosis Medium
Frequencyvery rare, only 6 cases have been reported in medical literature.
Deaths-

Aphalangy-syndactyly-microcephaly syndrome is a very rare limb malformation syndrome which is characterized by agenesis of the distal phalanges (distal aphalangia), syndactyly, duplication of the fourth metatarsal, microcephaly, and mild intellectual disabilities. [1] Only 6 cases [2] [3] [4] [5] from 4 families in Spain, Turkey and other countries [6] have been reported in medical literature. Transmission is autosomal dominant. [7]

References

  1. ↑ "Aphalangia partial with syndactyly and duplication of metatarsal IV - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on December 29, 2016. Retrieved 2022-06-02.
  2. ↑ Martínez-Frías, M. L.; Martín, M.; Pardo, M.; Fernandez de las Heras, F.; Frías, J. L. (1995-01-16). "Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder". American Journal of Medical Genetics. 55 (2): 213–216. doi:10.1002/ajmg.1320550212. ISSN   0148-7299. PMID   7717420.
  3. ↑ Di Rocco, M. (October 2002). "Distal aphalangia, an extra metatarsal, short stature and microcephaly: a second case". Clinical Dysmorphology. 11 (4): 295–296. doi:10.1097/00019605-200210000-00013. ISSN   0962-8827. PMID   12401998.
  4. ↑ Utine, Gülen Eda; Alanay, Yasemin; Aktaş, Dilek; Alikaşifoğlu, Mehmet; Boduroğlu, Koray (June 2009). "Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance". American Journal of Medical Genetics. Part A. 149A (6): 1317–1318. doi: 10.1002/ajmg.a.32825 . ISSN   1552-4833. PMID   19449409. S2CID   46416079.
  5. ↑ Ozsurekci, Yasemin; Komurluoglu, Ayca; Aytac, Selin; Oguz, Kader K.; Utine, Eda; Ceyhan, Mehmet (January 2015). "Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: a fourth patient with parental consanguinity and additional feature of massive cerebral thrombosis". Clinical Dysmorphology. 24 (1): 29–33. doi:10.1097/MCD.0000000000000057. ISSN   1473-5717. PMID   25304118.
  6. ↑ "OMIM Entry - % 600384 - APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV". omim.org. Retrieved 2022-06-02.
  7. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aphalangy syndactyly microcephaly syndrome". www.orpha.net. Retrieved 2022-06-02.{{cite web}}: CS1 maint: numeric names: authors list (link)


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