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]

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]

Presentations occur along a spectrum that ranges from metopic ridging to the presence of a triangular-shaped skull (i.e., trigonocephaly). [pocketdentistry.com]

• Acrocephaly

  The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. [ab-y-ss.com]

  Apert, Crouzon, Pfeiffer, Muenke, and Saethre–Chotzen syndromes are the most common of these, being classified according to the clinical involvement of the cranium, face, hands and feet, and other organs. 2 In these syndromes, brachycephaly or acrocephaly [jmg.bmj.com]

  Acrocephaly or Turricephaly This can result from multiple-suture fusion; thus, the skull grows upward. Basal suture fusion reduces the dimensions of the skull base. [emedicine.medscape.com]

• Visual Impairment

  impairment) Pseudopapilledema (abnormal elevation of the optic desk so that it appears to be swollen) Hypotonia: Decreased muscle tone especially of the arms and legs Weak facial muscles Highly arched roof of the mouth (palate) Excessive drooling Delayed [dovemed.com]

  Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present. [craniokids.co.za]

  There may be visual impairment, with an increased risk of developmental delay and mental retardation. [ijri.org]

  Premature fusion of multiple cranial sutures, on the other hand, has been consistently associated with increased intracranial pressure and the potential for mental and visual impairment (Renier et al. 2000) (Fig. 1.4). [rrnursingschool.biz]

• Visual Impairment

  impairment) Pseudopapilledema (abnormal elevation of the optic desk so that it appears to be swollen) Hypotonia: Decreased muscle tone especially of the arms and legs Weak facial muscles Highly arched roof of the mouth (palate) Excessive drooling Delayed [dovemed.com]

  Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present. [craniokids.co.za]

  There may be visual impairment, with an increased risk of developmental delay and mental retardation. [ijri.org]

  Premature fusion of multiple cranial sutures, on the other hand, has been consistently associated with increased intracranial pressure and the potential for mental and visual impairment (Renier et al. 2000) (Fig. 1.4). [rrnursingschool.biz]

• Blepharoptosis

  Union St., Rochester, NY 14624. trisomy 18 syndrome a condition due to the presence of an extra chromosome 18, characterized by neonatal hepatitis, mental retardation, scaphocephaly or other skull abnormality, small receding mandible, blepharoptosis [medical-dictionary.thefreedictionary.com]

• Frontal Bossing

  Some babies will develop a prominent forehead (also called frontal bossing). Unilateral Coronal Synostosis There are two coronal sutures, each running from the top of the head down the sides in front of the ears. [chla.org]

  Strip craniectomy also did not address the frontal bossing and associated abnormalities in calvarial shape and relied on the rapid growth of the brain to correct it. [en.wikipedia.org]

  Characteristics of sagittal craniosynostosis include: Elongated skull shape (front to back) Narrow skull width (side to side) Midline bony ridge Frontal bossing Occipital bullet or prominence Head circumference often > 90% When diagnosed early, children [craniofacialmd.com]

  This is the most common form of craniosynostosis and because the skull cannot effectively grow sideways, it overgrows front to back, sometimes with a narrow occiput (back of the skull) and overly large forehead (also referred to as frontal bossing). [chw.org]

  The skull grows parallel to the fused sagittal suture, the skull becomes elongated as the frontal and occipital bones compensate for the restricted lateral growth of the parietal bones resulting in frontal bossing. [thamburaj.com]

• Somnolence

  Clinicians must always maintain a high index of suspicion for OSA and monitor patients for snoring or an unusual amount of daytime somnolence. [pocketdentistry.com]

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]

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]

Apert Syndrome - Born with Apert syndrome, Madison received treatment from the Neonatal Craniofacial Program at CHOP. [chop.edu]

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]

Only those children who have overt trigonocephaly need treatment. [skullbaseinstitute.com]

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]

The etiology of craniosynostosis is heterogeneous. Isolated occurrence with unknown etiology is common, mostly affecting the sagittal suture. [ommbid.mhmedical.com]

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]

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]

This suggests a yet-to-be-identified single-gene, autosomal dominant genetic etiology. [nature.com]

Etiology Craniosynostosis has been estimated to occur in 1:2000 to 1:2500 births. [www2.aofoundation.org]

[…] 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]

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]

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]

Infant monitors and apparent life-threatening events Infant monitors should not be used to prevent SIDS. There is no evidence that apparent life-threatening events are precursors to SIDS. [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]