Acrocallosal Syndrome

Agenesis of Corpus Callosum

Abnormalities, Multiple

Syndrome

Intellectual Disability

Acrocallosal syndrome

List of OMIM disorder codes

Hydrolethalus syndrome

Greig cephalopolysyndactyly syndrome

Dandy-Walker malformation

Stanislas Lyonnet

Corpus callosum

Dysmelia

List of syndromes

ACLS

Macrocephaly

Webbed toes

List of diseases (A)

Agenesis of the corpus callosum

Polydactyly

Corpus callosum8

• Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. (wikipedia.org)
• Characteristics of this syndrome include agenesis of the corpus callosum, macrocephaly, hypertelorism, poor motor skills, intellectual disability, extra fingers and toes (particularly hallux duplication), and cleft palate. (wikipedia.org)
• Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macroencephaly and severe mental retardation: a new syndrome? (wikipedia.org)
• Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. (medlineplus.gov)
• The roles of these genes in brain and limb patterning may help explain why mutations lead to agenesis of the corpus callosum, polydactyly, and the other features of acrocallosal syndrome. (medlineplus.gov)
• Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. (uchicago.edu)
• Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? (uchicago.edu)
• Callosal disconnection syndrome in a patient with corpus callosum hemorrhage: a diffusion tensor tractography study. (koreamed.org)

Genetic7

• 3} Generally this syndrome is diagnosed by pre and post natal ultrasonography, radiography, post mortem examination and genetic analysis. (pediatriconcall.com)
• The genetic changes associated with Greig cephalopolysyndactyly syndrome include insertions or deletions of a small amount of DNA and changes in single DNA building blocks (base pairs) in critical regions of the gene. (encyclopedia.pub)
• The genetic changes that cause Greig cephalopolysyndactyly syndrome prevent one copy of the gene in each cell from producing any functional GLI3 protein. (encyclopedia.pub)
• Grieg cephalopolysyndactyly syndrome (GCPS) is a rare congenital genetic disorder present at birth, characterized through physical abnormalities, primarily affecting the development of the limbs, head, and face (craniofacial malformations). (lupinepublishers.com)
• The remaining cases are mostly due to underlying genetic syndromes such as Adams-Oliver syndrome or chromosomal abnormalities. (msdmanuals.com)
• Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. (fdna.health)
• In some instances, long fingers may be one of the features of a rare disease or genetic syndrome. (fdna.health)

Polydactyly10

• Mutations in the GLI3 gene may cause ACLS or similar syndromes such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, or certain types of polydactyly. (wikipedia.org)
• Chakrabarti R, Balde M, Kumar S, Wazir S. Short rib polydactyly syndrome type III (Verma- Naumoff type). (pediatriconcall.com)
• Short-rib-polydactyly-syndrome type III {SRPS3}, which is also called Verma-Naumoff syndrome. (pediatriconcall.com)
• It is a very rare syndrome characterised by short ribs, various gastrointestinal, cranial structural abnormality, post-axial polydactyly, cystic renal disease, heart and laterality disorder, ambiguous genitalia. (pediatriconcall.com)
• al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. (pediatriconcall.com)
• DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (pediatriconcall.com)
• Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. (pediatriconcall.com)
• At least 120 mutations in the GLI3 gene have been identified in people with Greig cephalopolysyndactyly syndrome, which is a rare condition characterized by polydactyly, hypertelorism, a broad forehead, and an unusually large head (macrocephaly). (encyclopedia.pub)
• More than 40 mutations in the GLI3 gene have been found to cause Pallister-Hall syndrome, a rare condition whose major features include polydactyly, an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway called a bifid epiglottis. (encyclopedia.pub)
• Typical Grieg cephalopolysyndactyly syndrome (GCPS) is characterized by a preaxial polydactyly or a mixed pre- and/or postaxial polydactyly, true wide spaced eyes, and macrocephaly. (lupinepublishers.com)

Congenital3

• Congenital limb deficiencies have many causes and often occur as a component of various congenital syndromes. (msdmanuals.com)
• Congenital central hypoventilation syndrome: diagnosis and management. (nih.gov)
• The Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis ) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum . (mdwiki.org)

GLI38

• Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome. (wikipedia.org)
• However, the signs and symptoms overlap significantly with those of a similar disorder called Greig cephalopolysyndactyly syndrome (which is also caused by GLI3 gene mutations), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition. (medlineplus.gov)
• At least two mutations in the GLI3 gene have been reported in people with features of acrocallosal syndrome, a rare condition characterized by certain brain abnormalities, extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. (encyclopedia.pub)
• These signs and symptoms overlap significantly with those of Greig cephalopolysyndactyly syndrome (described below), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition. (encyclopedia.pub)
• The GLI3 gene mutations that cause acrocallosal syndrome change single protein building blocks (amino acids) in a particular region of the GLI3 protein, which disrupts the protein's function. (encyclopedia.pub)
• It remains unclear how a reduced amount of the GLI3 protein disrupts development of the limbs, head, and face and causes the specific features of Greig cephalopolysyndactyly syndrome. (encyclopedia.pub)
• Most of the mutations that cause Pallister-Hall syndrome occur near the middle of the gene, creating a premature stop signal in the instructions for making the GLI3 protein. (encyclopedia.pub)
• Grieg syndrome has a wide range of varieties depending on the Mutations in the GLI3 gene related to chromosome 7, and the presence of continuous intermittent tachypnea did not report as a primary fetcher. (lupinepublishers.com)

Schinzel3

• The syndrome was first described by Albert Schinzel in 1979. (wikipedia.org)
• Acrocallosal syndrome (ACLS, ACS, Schinzel-type, Hallux-duplication) is a rare, heterogeneous autosomal recessive disorder first discovered by Albert Schinzel (1979) in a 3-year-old boy. (wikipedia.org)
• Courtens W, Vamos E, Christophe C, Schinzel A. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. (medlineplus.gov)

ACLS1

• ACLS may be differentiated from Greig cephalopolysyndactyly syndrome by the presence of intracranial cysts. (wikipedia.org)

Mutations2

• Mutations in the KIF7 gene have been found to cause acrocallosal syndrome. (medlineplus.gov)
• In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was shown that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis . (mdwiki.org)

Malformations1

• This photo shows radial atresia of the right arm in a patient with VACTERL ( v ertebral anomalies, a nal atresia, c ardiac malformations, t racheo e sophageal fistula, r enal anomalies and r adial aplasia, and l imb anomalies) syndrome. (msdmanuals.com)

Greig cephalop1

• 2} Differential diagnosis include Ellis-van Creveld syndrome, Acropectoral syndrome, Greig-cephalopolysyndactyly syndrome, Saldino-Noonan syndrome, Acrocallosal syndrome. (pediatriconcall.com)

Occur2

• Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. (nih.gov)
• A syndrome, by definition, is a group of signs and symptoms that occur together and form an identifiable pattern. (fdna.health)

Symptoms1

• [9] As a result, there are few syndrome management techniques: Symptoms of distichiasis can be minimized via eyelash plucking, electrolysis and other various treatments. (mdwiki.org)

Mutation1

• [4] It is estimated that only ¼ of diagnosed individuals did not inherit the condition but rather acquired the syndrome via a de novo mutation. (mdwiki.org)

Severe3

• Severe hypotonia can lead to fatal infant respiratory distress syndrome or apnea within the first days or weeks of life. (wikipedia.org)
• Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. (nih.gov)
• Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. (nih.gov)

Spectrum2

• The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. (bmj.com)
• How wide is the clinical spectrum of the acrocallosal syndrome? (bmj.com)

Demonstrates1

• Plain roentgenogram of a patient with acrocallosal syndrome demonstrates duplication of phalangeal bones and one extra poorly formed metatarsal of the duplicated hallux. (medlink.com)

Type3

• Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
• Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). (medscape.com)
• Child with Hurler syndrome (mucopolysaccharidosis type IH). (medscape.com)

Gene3

• Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
• Lymphedema-distichiasis syndrome is a medical condition associated with the FOXC2 gene. (mdwiki.org)
• Currently, the most accurate test to determine if an individual is affected by lymphedema-distichiasis syndrome is done via Sanger sequencing , which includes whole genome analysis and single gene and multigene testing. (mdwiki.org)

Anomalies1

• Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. (beds.ac.uk)

Clinical2

• Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. (nih.gov)
• Diagnosis of Currarino syndrome is usually clinical, detecting all three elements of the triad. (mdwiki.org)

Abnormalities1

• Other brain abnormalities, including the growth of large cysts in brain tissue, have also been reported in people with acrocallosal syndrome. (medlineplus.gov)

Diagnosis1

• Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. (nih.gov)

Alien Hand Syn2

• We report the findings of 18F-fluorodeoxyglocese positron emission tomography (FDG-PET) and diffusion tensor tractography (DTT) in a right-handed patient presenting with callosal disconnection syndrome, including alien hand syndrome, after an anterior communicating artery aneurysmal rupture. (koreamed.org)
• 1. Suwanwela NC, Leelacheavasit N. Isolated corpus callosal infarction secondary to pericallosal artery disease presenting as alien hand syndrome. (koreamed.org)

Dysplasia1

• The management of Currarino syndrome is similar to the usual management of anorectal malformation (ARM) regarding the surgical approach and probably the prognosis that mainly depends on degree of associated sacral dysplasia. (mdwiki.org)

Distinct2

• 1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. (findzebra.com)
• However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind. (mdwiki.org)

Fontanel1

• The most common causes of a large anterior fontanel or delayed fontanel closure are achondroplasia, hypothyroidism, Down syndrome, increased intracranial pressure, and rickets. (aafp.org)

Cleft1

• They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple. (msdmanuals.com)

Absence1

• Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. (beds.ac.uk)

Infant1

• Infant with Larsen syndrome. (medscape.com)

People3

• Extra fingers and toes are common in people with acrocallosal syndrome. (medlineplus.gov)
• This graph shows the total number of publications written about "Acrocallosal Syndrome" by people in this website by year, and whether "Acrocallosal Syndrome" was a major or minor topic of these publications. (uchicago.edu)
• Below are the most recent publications written about "Acrocallosal Syndrome" by people in Profiles. (uchicago.edu)

Anterior2

• Anterior sacral meningocele is the most common presacral mass in patients with Currarino syndrome occurring in 60% of cases. (mdwiki.org)
• Anterior meningocele pouch associated with Currarino syndrome will regresses over time following transdural ligation of its neck. (mdwiki.org)