Acrocephalosyndactylia (Subscribe) XML icon Add to My Yahoo!  Add to Google

Craniostenosis characterized by acrocephaly and syndactyly
[OCOSH Code: D000168 268262006 Q87.0 HD_CHD_FD_SD_ACS]

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Apert Syndrome

Location: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Apert%20Syndrome

distinctive malformations of the head and facial (craniofacial) region and defects of the hands and feet. In some instances, mental retardation. unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within...
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Apert Syndrome OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101200

#101200 APERT SYNDROME
Alternative titles;
ACROCEPHALOSYNDACTYLY, TYPE I; ACS1
ACS I
APERT-CROUZON DISEASE, INCLUDED
ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED
ACS II, INCLUDED
VOGT CEPHALODACTYLY, INCLUDED
Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal...
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Goodman Syndrome

Location: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Goodman%20Syndrome

Goodman Syndrome (Acrocephalopolysyndactyly Type IV) is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. ACPS type IV. Nord Database
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Saethre Chotzen Syndrome

Location: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Saethre%20Chotzen%20Syndrome

craniosynostosis, causing the top of the head to appear pointed (acrocephaly), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits). aka acrocephalosyndactyly type III. partial fusion of soft tissues (cutaneous syndactyly) of certain fingers and toes (digits); unusually short digits (brachydactyly); and broad great toes. NORD Database
Synonyms of...
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Summitt Syndrome

Location: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Summitt%20Syndrome

Craniosynostosis and polysundactyly. May be one of the ACPS group of syndromes. NORD database.
Synonyms of Summitt Syndrome
* Summitt's Acrocephalosyndactyly
Summitt syndrome is an extremely rare genetic disorder characterized by malformations of the head, abnormalities of the hands and/or feet, and obesity. The syndrome is inherited as...
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View Details Visit Resource Review It Rate It Bookmark It Added: Sat Jul 16 2005