Ectrodactyly

Common Name(s)

Ectrodactyly

Ectrodactyly, also know as split hand, cleft hand, and lobster claw hand, is a rare condition. The hand and/or feet of a person with ectrodactyly will be missing one or more fingers or toes (or even just a part of a finger or toe). In the most common form (which is described by its other names), people with ectrodactyly have their thumb and their little finger and ring finger and are missing their index finger and middle finger, with a similar situation of their feet. Sometimes people with ectrodactyly are born with syndactyly of their ring finer and little finger; this means that their ring finger and middle finger are fused or joined together. People are born with ectrodactyly and it can often also be detected by ultrasound before a baby is born. Once baby has been born, parents sometimes choose to have surgery on the baby’s hands and feet for cosmetic reasons (how it looks). There are multiple forms of ectrodactyly, some that only cause the hands and feet to appear different, and other forms that can cause deafness and other symptoms. Talk with your doctor if you or your child has been diagnosed with ectrodactyly to find the best treatment for you.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ectrodactyly" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ectrodactyly" returned 30 free, full-text research articles on human participants. First 3 results:

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
 

Author(s): Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

Journal: J. Med. Genet.. 2013 Sep;50(9):585-92.

 

Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been ...

Last Updated: 19 Aug 2013

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[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].
 

Author(s): Luis Enrique Meza Escobar, Carolina Isaza, Harry Pachajoa

Journal: Arch Argent Pediatr. 2012 Oct;110(5):e95-8.

 

The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. ...

Last Updated: 16 Oct 2012

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A sporadic case of oligosymptomatic ectrodactyly-ectodermal dysplasia-clefting syndrome.
 

Author(s): Adone Baroni, Baroni Adone, Vincenzo Piccolo, Piccolo Vincenzo, Rosa Di Maio, Di Maio Rosa, Teresa Russo, Russo Teresa

Journal: Indian J Dermatol Venereol Leprol. ;78(4):521.

 

Last Updated: 9 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ectrodactyly" returned 2 free, full-text review articles on human participants. First 3 results:

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.
 

Author(s): Amelia A Keaton, Benjamin D Solomon, Anthonie J van Essen, Kathleen M Pfleghaar, Michael A Slama, Judith A Martin, Maximilian Muenke

Journal: Am J Med Genet C Semin Med Genet. 2010 Feb;154C(1):170-5.

 

Holoprosencephaly (HPE) and ectrodactyly represent congenital malformations of the developing forebrain and developing digits, respectively. The combination of these conditions is rare, with only 15 cases known to date (12 previously reported, and 3 new cases described here). While ...

Last Updated: 1 Feb 2010

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Prenatal diagnosis of ectrodactyly: the 'lobster claw' anomaly.
 

Author(s): K Y Leung, N A MacLachlan, W Sepulveda

Journal: Ultrasound Obstet Gynecol. 1995 Dec;6(6):443-6.

 

Ectrodactyly is a rare condition characterized by absence of digits, ranging from single absence of a finger to the split hand/foot deformity. This anomaly has been reported as sporadic and in association with a number of genetic and non-genetic syndromes, such as the autosomal dominant ...

Last Updated: 20 Feb 1997

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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