Split hand foot malformation 1

Common Name(s)

Split hand foot malformation 1

Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
 

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Following organizations serve the condition "Split hand foot malformation 1" for support, advocacy or research.

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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 "Split hand foot malformation 1" returned 4 free, full-text research articles on human participants. First 3 results:

Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.
 

Author(s): Kentaro Suzuki, Ryuma Haraguchi, Tsutomu Ogata, Ottavia Barbieri, Olinda Alegria, Maxence Vieux-Rochas, Naomi Nakagata, Masataka Ito, Alea A Mills, Takeshi Kurita, Giovanni Levi, Gen Yamada

Journal: Eur. J. Hum. Genet.. 2008 Jan;16(1):36-44.

 

Urogenital birth defects are one of the common phenotypes observed in hereditary human disorders. In particular, limb malformations are often associated with urogenital developmental abnormalities, as the case for Hand-foot-genital syndrome displaying similar hypoplasia/agenesis of ...

Last Updated: 13 Dec 2007

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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
 

Author(s): Mohammed Naveed, Swapan K Nath, Mathew Gaines, Mahmoud T Al-Ali, Najib Al-Khaja, David Hutchings, Jeffrey Golla, Samuel Deutsch, Armand Bottani, Stylianos E Antonarakis, Uppala Ratnamala, Uppala Radhakrishna

Journal: Am. J. Hum. Genet.. 2007 Jan;80(1):105-11.

 

Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, ...

Last Updated: 12 Dec 2006

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Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.
 

Author(s): I Wieland, P Muschke, S Jakubiczka, M Volleth, B Freigang, P F Wieacker

Journal: J. Med. Genet.. 2004 May;41(5):e54.

 

Last Updated: 3 May 2004

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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 "Split hand foot malformation 1" returned 1 free, full-text review articles on human participants. First 3 results:

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

 

Last Updated: 5 Apr 2017

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