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Familial Scaphocephaly Syndrome


Presentation

  • Acronym FSPC Synonyms Scaphocephaly with maxillary retrusion and mental retardation Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Where phenotype data were present, all had either Crouzon syndrome or Pfeiffer syndrome.[jmg.bmj.com]
  • Plagiocephaly (plagio oblique cephaly head) This condition presents with a lop-sided or twisted appearance to the head, with one side of the forehead or posterior head pushing out farther than the other.[augusta.edu]
  • Frequency: Past and Present While the rates of brachycephaly and plagiocephaly appear to have been affected by the Back to Sleep campaign, there are no reports of a similar increase in scaphocephaly.[babyflathead.org]
  • FGFR2 mutations are present in Apert and Crouzon syndromes, as well as Pfeiffer syndrome (types 1-3), Jackson-Weiss syndrome, Beare-Stevenson syndrome and FGFR2-related isolated coronal synostosis [5].[eyewiki.aao.org]
Broad Great Toe
  • Individual IV:31 is shown before and after craniofacial surgery and the photograph of his feet illustrates the complete 2,3 soft tissue toe syndactyly and the broad great toe.[jmg.bmj.com]
  • Jackson-Weiss syndrome: An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence.[ab-y-ss.com]
  • JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence.[abcam.com]
Tall Stature
  • Of 19 unaffected individuals, three had macrocephaly with tall stature, and none had scaphocephaly.[jmg.bmj.com]
Microdontia
  • Pfeiffer syndrome type 3 Saethre-Chotzen syndrome Kallmann syndrome Normosmic congenital hypogonadotropic hypogonadism Aplasia of lacrimal and salivary glands Autosomal agammaglobulinemia SHORT syndrome Deafness with labyrinthine aplasia, microtia, and microdontia[csbg.cnb.csic.es]
Mid-Face Hypoplasia
  • More severely affected individuals (for example, IV:11 and III:3) are male and have scaphocephaly, macrocephaly, a high forehead, marked mid-face hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and class III malocclusion.[jmg.bmj.com]
Learning Difficulties
  • Learning difficulty in other individuals was based on family reporting of schooling difficulties. Statistical analysis of the relation between genotype and learning difficulties was carried out using Pearson’s χ 2 test.[jmg.bmj.com]
  • difficulties, severe cosmetic deformities and high intracranial pressure [ 1 ].[bmcproc.biomedcentral.com]

Workup

  • Sleep apnea may be central, obstructive, or of mixed origin; proper workup and assessment are crucial to the establishment of the correct diagnosis and treatment. * Central apnea may result from intracranial hypertension.[pocketdentistry.com]

Treatment

  • In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Treatments [ edit ] The major treatment is surgery for most babies. The type of surgery which they would undergo differs from age and strength they have.[en.wikipedia.org]
  • She assured Taylor’s parents that treatment at this early stage could be very effective. Taylor’s physical therapist explained that Taylor’s treatment would focus on clinical and home treatment techniques.[moveforwardpt.com]
  • Apert Syndrome - Born with Apert syndrome, Madison received treatment from the Neonatal Craniofacial Program at CHOP.[chop.edu]

Prognosis

  • Treatment and prognosis Treatment is often with a cranioplasty. Abnormal intracranial pressure may affect neurocognition. Promoted articles (advertising)[radiopaedia.org]
  • Prognosis In general, a single operation is all that is necessary to treat this condition and the cosmetic and clinical outcomes are usually excellent especially for otherwise healthy, nonsyndromic infants.[skullbaseinstitute.com]
  • The prognosis for Type 2 patients is poor, with a high likelihood of neurologic problems and early death.[craniokids.co.za]
  • The severity of the cranial bone deformations, associated systemic abnormalities and age of diagnosis may yield variable treatment outcomes and overall prognosis [6].[eyewiki.aao.org]

Etiology

  • In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and[books.google.com]
  • The etiology of craniosynostosis is heterogeneous. Isolated occurrence with unknown etiology is common, mostly affecting the sagittal suture.[ommbid.mhmedical.com]
  • Occurrence Asymmetry of the head is a common occurrence in infants and may have a number of etiologies, including positional deformity, simple craniosynostosis, complex craniofacial synostosis, metabolic bone disease, depressed skull fracture, microcephaly[pedsinreview.aappublications.org]
  • Etiology Craniosynostosis has been estimated to occur in 1:2000 to 1:2500 births.[www2.aofoundation.org]
  • This suggests a yet-to-be-identified single-gene, autosomal dominant genetic etiology.[nature.com]

Epidemiology

  • […] retrusion - intellectual deficit Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology of SIDS and explained sudden infant deaths. Pediatrics. 1999;104(4):e43. 20. Van Nguyen JM, Abenhaim HA. Sudden infant death syndrome: review for the obstetric care provider. Am J Perinatol. 2013;30(9):703–714. 21.[aafp.org]
  • An epidemiological study of nonsyndromal craniosynostoses. J Craniofac Surg 2011; 22 :47–49. 34. Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • This provides a platform for ongoing work to understand the processes of suture biogenesis and the pathophysiology of craniosynostosis mutations.[ommbid.mhmedical.com]
  • This pictorial review illustrates the underlying mechanisms and pathophysiology of craniosynostosis, the various types of craniosynostoses, common craniofacial syndromes and the role of imaging in their diagnosis and management.[ijri.org]

Prevention

  • Plagiocephaly treatment Expert recommendations for treating flat head syndrome sound a lot like their suggestions for preventing it: Repositional therapy involves preventing baby from resting on the flattened spot all the time.[thebump.com]
  • Prevention The best treatment for a flat head is to prevent it from happening. It is important to establish these habits early! When flattening is noticed early, the same techniques used for prevention can help nip it in the bud.[healthychildren.org]
  • Preventive Services Task Force website ( ) and the Cochrane database. Search dates: June 2014 through March 2015. The Authors show all author info STEPHEN M.[aafp.org]
  • The protein produced by PTEN genes acts as a tumor suppressor that helps in preventing cells from growing and dividing in an abnormal or uncontrolled way When a defect or mutation in this gene occurs, the cell proliferation process is affected, which[dovemed.com]

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