Symptoma

Acrocallosal Syndrome

ACS

Hypogenitalism may be a presenting feature. Positive consanguinity provides further evidence for autosomal recessive inheritance. [ncbi.nlm.nih.gov]

  • Broad Thumb

    His left hand displayed a broad thumb and 4/5 syndactyly. In both cases, gross examination of the brain showed an absence of corpus callosum associated with interhemispheric cysts. The cerebral cortex in front of the cysts was nodular. [ncbi.nlm.nih.gov]

    His hands showed bilateral postaxial nubbins, a broad thumb on the right hand, and a partially duplicated thumb on the left. He also had 2/3 partial cutaneous syndactyly on the right and 3/4 partial cutaneous syndactyly on the left. [jmg.bmj.com]

    Thumb And Toes Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly Stapes Ankylosis Syndrome Without Symphalangism Teunissen-Cremers Syndrome 184460 Genetic Test Registry Stickler Syndrome, Type I Arthroophthalmopathy, Hereditary [ukgtn.nhs.uk]

  • Poor Growth

    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 nose [ more ] 0003196 [rarediseases.info.nih.gov]

  • Muscle Hypotonia

    […] adult-onset ALS UBQLN2 Amyotrophy hereditary neuralgic SEPT9 Angelman syndrome chr. 15q11 Angelman syndrome UBE3A Angelman-like syndrome CDKL5 Angelman-like syndrome MECP2 Arts syndrome PRPS1 Asperger syndrome susceptibility X-linked type 2 NLGN3 Ataxia and muscle [centogene.com]

  • Widely Spaced Nipples

    spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. [ncbi.nlm.nih.gov]

    Alveolar ridges in the mouth and wide-spaced nipples were also noted. Examination of the limbs were remarkable for postaxial polydactyly of hands and hallux duplication in the feet [Figure 1] and [Figure 2]. [jcnonweb.com]

    Other abnormalities noted at birth included exomphalos, repaired shortly after birth, secundum ASD, and widely spaced nipples. Chromosomal analysis was normal and a diagnosis of acrocallosal syndrome was made. [jmg.bmj.com]

  • 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]

    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]

  • Short Nose

    nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. [ncbi.nlm.nih.gov]

    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]

    Minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils and large anterior fontanels); Moderate to severe psychomotor retardation (with hypotonic); Polydactyl. [medigoo.com]

    nose Decreased length of nose Shortened nose [ more ] 0003196 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Triphalangeal thumb Finger-like thumb 0001199 Umbilical hernia [rarediseases.info.nih.gov]

  • 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]

    occiput hyperreflexia nystagmus cleft lip cleft palate supernumerary nipples rib hypoplasia prenatal overgrowth post natal growth deficiency anecephaly. [ispub.com]

  • 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]

  • Median Cleft Lip

    We report on a nonconsanguineous, Norwegian couple with a history of two pregnancies with a male and a female fetus, respectively, with anencephaly, median cleft lip and palate, omphalocele, and preaxial polydactyly, suggesting the diagnosis of the acrocallosal [ncbi.nlm.nih.gov]

  • Akinesia

    Syndrome UV sensitive syndrome Maternally inherited diabetes and deafness Facio thoraco genital syndrome Cryptophthalmos Meier-Gorlin syndrome Tyrosinemia type 3 Goodman syndrome Deafness-infertility syndrome Bartter syndrome type 3 3M syndrome Fetal akinesia [checkrare.com]

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]

Treatment: Management of ACS includes surgical correction of polydactyly, cleft palate, hernia, brain cyst/tumors and congenital cardiac malformations. [medigoo.com]

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 Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for ACS. [orpha.net]

Elsevier Health Sciences, 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.de]

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]

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]

Pathophysiologically, both ACLS and JS share an abnormal formation or function of cilia (see below) and have thus been classified as ‘ciliopathies' [Waters and Beales, 2011]. [karger.com]

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]

The so- called holoprosencephaly-diencephalic hamartoblastoma association is apparently heterogeneous, and some patients diagnosed with this condition may share a common pathophysiologic pathway with the pathways in HLS (30). [redorbit.com]

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]

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]

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]

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