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Acrocallosal Syndrome
ACS
Presentation
- Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed.[ncbi.nlm.nih.gov]
- A large inbred kindred with recurrent ACS is presented. This family further strengthens the hypothesis of autosomal recessive inheritance for this syndrome.[ncbi.nlm.nih.gov]
- Hypogenitalism may be a presenting feature. Positive consanguinity provides further evidence for autosomal recessive inheritance.[ncbi.nlm.nih.gov]
- Also present, in addition to the homozygous KIF7 mutation, were loss of function variants in known ciliopathy genes; AHI1 (p.R830W), BBS2 (p.N70S) and BBS4 (p.M472V).[ncbi.nlm.nih.gov]
- A review is conducted to present the pertinent medical literature concerning the oral findings associated with ACS. Dental management of this case and possible contributing factors of delayed exfoliation/permanent tooth eruption are also discussed.[ncbi.nlm.nih.gov]
Entire Body System
Tall Stature
- stature Increased body height 0000098 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 1%-4% of people have these symptoms Abnormality of cardiovascular system morphology 0030680 Abnormality of the pinna Abnormally shaped ears Auricular[rarediseases.info.nih.gov]
- Stature, And Hearing Loss Syndrome CATSHLS 610474 Genetic Test Registry Camurati-Engelmann Disease Diaphyseal Dysplasia 1, Progressive Engelmann Disease Progressive Diaphyseal Dysplasia CAEND CAEND CED DPD1 PDD 131300 Genetic Test Registry Cardiac Valvular[ukgtn.nhs.uk]
Face, Head & Neck
Large Anterior Fontanels
- Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds,[ncbi.nlm.nih.gov]
- These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly, polydactyly, and mental retardation.[ncbi.nlm.nih.gov]
- Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome.[ncbi.nlm.nih.gov]
- Clinical description In ACS, craniofacial anomalies include macrocephaly with protruding forehead and occiput, hypertelorism, large anterior fontanel, short mandible and nose with anteverted nostrils and broad nasal bridge.[orpha.net]
- Other features have also been described; minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils, large anterior fontanelle), intracranial cysts and umbilical or inguinal hernia ( 3 ).[deepdyve.com]
Prominent Occiput
- Prominent occiput. Deep-set eyes. Scoliosis. Micropenis. Cryptorchidism.[medigoo.com]
- occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Toe syndactyly Fused toes Webbed[rarediseases.info.nih.gov]
Shortened Nose
- […] failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Inguinal hernia 0000023 Preauricular skin tag 0000384 Prominent occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Short nose Decreased length of nose Shortened[rarediseases.info.nih.gov]
Protruding Lips
- The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula[ncbi.nlm.nih.gov]
Protruding Lips
- The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula[ncbi.nlm.nih.gov]
Treatment
- When a patient with ACS or XLH presents with constipation, we must consider HSCR in the differential diagnosis, and early treatment is important.[ncbi.nlm.nih.gov]
- The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
- Treatment - Acrocallosal syndrome- Schinzel type The treatment of acrocallosal syndrome, Schinzel type is directed toward the specific symptoms that are apparent in each individual.[checkorphan.org]
- Limited information concerning the dental development and treatment has been published.[ncbi.nlm.nih.gov]
- CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
Prognosis
- Prognosis Prognosis depends on the severity of malformations and hypotonia, and on the occurrence of seizures. The documents contained in this web site are presented for information purposes only.[orpha.net]
- Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.[ncbi.nlm.nih.gov]
- Diagnosis - Acrocallosal syndrome- Schinzel type Prognosis - Acrocallosal syndrome- Schinzel type Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limbs malformations.[checkorphan.org]
- Prognosis Prognosis depends on the severity of malformations and hypotonia, and on the occurrence of seizures. Last updated: 11/1/2011 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
Etiology
- Etiology Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for ACS.[orpha.net]
Epidemiology
- Summary Epidemiology The prevalence is not known but fewer than 50 cases of ACS have been published since the first description in 1979.[orpha.net]
- Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease[books.google.de]
- ., Granjean, H. 1997 Autism and associated medical disorders in a French epidemiological survey Journal of the American Academy of Child and Adolescent Psychiatry 36 1561 1569 Google Scholar Gillberg, C., Coleman, M. 1992 The biology of autistic syndromes2[link.springer.com]
- Epidemiology The prevalence is not known but fewer than 50 cases of ACS have been published since the first description in 1979.[rarediseases.info.nih.gov]
Sex distribution
Age distribution
Pathophysiology
- New Now see our separate page for BLS Algorithms Anesthesia ACLS Algorithms These algorithms involve ACLS events in in-hospital settings for anesthetic and surgically related pathophysiology. Thank you to Vivek K.[acls.net]
- To gain insight into the pathophysiological mechanism underlying the clinical features of individuals with KIF7 mutations, we undertook a transcriptome-wide analysis using total RNA extracted from lung tissue from three affected fetuses from family 1[ncbi.nlm.nih.gov]
Prevention
- Furthermore, it is desirable to select a line treatment of HSCR to prevent infection of the ventriculoperitoneal shunt if the patient requires it.[ncbi.nlm.nih.gov]
- Prevention - Acrocallosal syndrome- Schinzel type Antenatal diagnosis is possible for better prevention of this genetic disorder.[checkorphan.org]
- This clinical variability can be explained by the action of K1F7, as it is a regulator of the Sonic Hedgehog pathway by preventing an inappropriate activation of Gli2 and the processing of Gli3 into its repressor form.[medlink.com]
- Prevents leak through the nose and mouth. Helps secure placement. Inflate the tracheal cuff with 15ml of air. Prevents ventilation of stomach. Reduces risk of aspiration of stomach content. Secure in place of ETT.[acls-pals-bls.com]
- Diagnosis: The differential diagnosis ACS includes Greig's Cephalopolysyndactyly syndrome, Oro-facial-digital syndromes Type I and II, Meckel-Gruber syndrome, Smith-Lemli-optiz syndrome, Rubinstein-Taybi syndrome.Antenatal diagnosis is possible for better prevention[medigoo.com]