Aphalangy-syndactyly-microcephaly syndrome
| Aphalangy-syndactyly-microcephaly syndrome | |
|---|---|
 | |
| Specialty | Medical genetics |
| Prevention | none |
| Prognosis | Medium |
| Frequency | very 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
[edit]- ^ "Aphalangia partial with syndactyly and duplication of metatarsal IV - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-02.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "OMIM Entry - % 600384 - APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV". omim.org. Retrieved 2022-06-02.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aphalangy syndactyly microcephaly syndrome". www.orpha.net. Retrieved 2022-06-02.
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