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

We present two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene. [jhu.pure.elsevier.com]

• Poor Growth

  […] delay Delayed growth Growth deficiency Growth 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 [rarediseases.info.nih.gov]

• Muscle Hypotonia

  […] dysfunction syndrome ACTA2 Muscle hypertrophy MSTN Muscle-eye-brain disease, POMK related POMK Muscular dystrophy type 1A LAMA2 Muscular dystrophy type 1C FKRP Muscular dystrophy type 1D LARGE Muscular dystrophy, Becker type DMD Muscular dystrophy, congenital [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. [dx.doi.org]

• 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]

• Prominent Occiput

  Prominent occiput. Deep-set eyes. Scoliosis. Micropenis. Cryptorchidism. [medigoo.com]

  [Figure - 6] Others • Triple hair whorl [Figure - 7] • Prominent occiput [Figure - 2] • Deep-set eyes • Scoliosis [Figure - 8] • Micropenis [Figure - 6] • Cryptorchidism Clinically, no cardiovascular and respiratory system abnormality was noted. [jisppd.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]

• Thin Lips

  In addition to the classic facial deformities aforementioned, the other most commonly reported oral findings are: short philtrum/upper lip (30%); high-arched palate (30%); cleft lip/palate (20%); micro/retrognathia (13%); open mouth (15%); thin lips [ncbi.nlm.nih.gov]

  […] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased [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]

• Hypsarrhythmia

  Sanchis A, Cervero L, Martinez A (1985) Duplication of hands and feet multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome? Am J Med Genet 20: 123–130 PubMed Google Scholar 10. [link.springer.com]

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]

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]

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]

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 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]

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]

Scholar Eggas, B., Courchesne, E., Saitoh, O. 1995 Reduced size of corpus callosum in autism Archives of Neurology 52 754 801 Google Scholar Fommbonne, E., du Mazaubrun, C., Cans, C., Granjean, H. 1997 Autism and associated medical disorders in a French epidemiological [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]

We cover everything you need to know over two days: pathophysiology, pharmacology, and treatments. You will be certified for two years upon successful completion. The online/hybrid course includes all necessary materials online. [cpc.mednet.ucla.edu]

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]

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]

Prevention - Acrocallosal syndrome- Schinzel type Antenatal diagnosis is possible for better prevention of this genetic disorder. [checkorphan.org]

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]

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]