At present, however, the absolute and age-related risks of these disorders when association with SMAD6 variants are unknown. [nature.com]

Papilledema is not always present in MPS patients with increased ICP (for example, MPS VI patients, patient no. 3), while, vice versa, it can be present in patients with normal ICP, as a result of GAG accumulation in the sclera or optic nerve (Beck and [link.springer.com]

Craniosynostosis may be congenital (present at birth), but difficult to recognize in the early weeks. It may be observed later, during a physical examination. [childrenswi.org]

Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for recurrence, depending on the specific syndrome present. [hopkinsmedicine.org]

Affected Populations Primary craniosynostosis affects individuals of all races and ethnicities and is usually present at birth. [rarediseases.org]

• Dysostosis

  The mucopolysaccharidoses are multisystem disorders with a broad range of clinical manifestations, including extensive skeletal abnormalities (dysostosis multiplex, joint contractures) and hydrocephalus (Neufeld and Muenzer 2001; Dalla Corte et al. 2017 [link.springer.com]

• Dolichocephaly

  […] years occipitomastoid: approximately 16 years sagittal: approximately 22 years coronal: approximately 24 years lambdoid: approximately 26 years squamosal: approximately 60 years Types brachycephaly: bicoronal and/or bilambdoid sutures scaphocephaly/dolichocephaly [radiopaedia.org]

  The terms used to describe this shape are scaphocephaly or dolichocephaly. [childrenswi.org]

• Torticollis

  Flat Spots on Your Baby's Head Could Be a Sign of Plagiocephaly Sometimes, a baby’s head will become misshapen when they spend a lot of time on their back, or because of problems with their neck muscles (torticollis). [choc.org]

  Exercises to relieve torticollis and positioning the rounded side of the head on the mattress may help correct a flattened head. [aafp.org]

• Hypertelorism

  Clinical findings include brachycephalic craniosynostosis, significant hypertelorism, proptosis, maxillary hypoplasia, beaked nose and, possibly, cleft palate. [aafp.org]

Surgery is typically the recommended treatment for craniosynostosis. The goal of treatment is to reduce the pressure in the head and correct the deformities of the face and skull bones. [choc.org]

As such, the treatment of craniosynostosis has gone through interesting cycles over time. In the early history of SSC treatment, the operations focused on removing the fused suture, without major surgical reconstruction. [thejns.org]

expectations of what will occur without treatment other medical problems that may be present The mildest forms of craniosynostosis do not require treatment. [childrenswi.org]

Early diagnosis and treatment allow your baby's brain adequate space to grow and develop. [mayoclinic.org]

Treatment and prognosis Treatment is often with a cranioplasty. Abnormal intracranial pressure may affect neurocognition. [radiopaedia.org]

Treatment and prognosis Treatment is often with a cranioplasty. Abnormal intracranial pressure may affect neurocognition. [radiopaedia.org]

Etiology of Craniosynostosis Abstract Development Etiology of Craniosynostosis Diagnosis Clinical Evaluation Radiographic Evaluation Complications Management References The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic [aafp.org]

Associations Most occur as isolated anomalies but syndromic associations can be seen in a small proportion of cases (~10%): acrocephalosyndactyly/acrocephalopolysyndactyly types Apert syndrome Carpenter syndrome Crouzon syndrome choanal atresia Etiology [radiopaedia.org]

Most cases occur randomly for no apparent reason (sporadically) although an infant’s position in utero, large size and presence of twins have all been implicated as etiological factors. [rarediseases.org]

RESULTS Resequencing of SMAD6 in 795 patients with CRS of unknown etiology To investigate the contribution of SMAD6 variants in CRS, we performed NGS-based resequencing of SMAD6 in 795 unsolved patients with any type of CRS. [nature.com]

Cleft Palate Craniofac J 54:612–617, 2017 Search Google Scholar Export Citation 57↑ Selber J, Reid RR, Chike-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D, : The changing epidemiologic spectrum of single-suture synostoses. [thejns.org]

Epidemiology. 1995;6:306–10. 11. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet. 1994;8:269–74. 12. [aafp.org]

A genetic-pathophysiological framework for craniosynostosis. Am J Hum Genet. 2015;97:359–377. CAS Article Google Scholar 2. Wilkie AOM, Johnson D, Wall SA. Clinical genetics of craniosynostosis. Curr Opin Pediatr. 2017;29:622–628. [nature.com]

Reefhuis J, Honein MA, Schieve LA, Rasmussen SA, and the National Birth Defects Prevention Study. Use of clomiphene citrate and birth defects, National Birth Defects Prevention Study, 1997–2005. Hum Reprod. 2011;26:451–457. [cdc.gov]

Complications Surgery can prevent complications from craniosynostosis. If the condition isn’t treated, the baby’s head may be permanently deformed. [healthline.com]

Prevention and management of positional skull deformities in infants. Pediatrics. 2003;112(1 pt 1):199–202. 21. Teichgraeber JF, Ault JK, Baumgartner J, Waller A, Messer-smith M, Gateno J, et al. [aafp.org]

The goals of surgery are: To relieve pressure on the child's brain To make sure there is enough room in the skull to allow the brain to properly grow To improve the appearance of the child's head To prevent long-term neurocognitive issues Risks for any [medlineplus.gov]

Paediatr Anaesth 28:758–763, 2018 Search Google Scholar Export Citation 19↑ Faber HK, Towne EB: Early operation in premature cranial synostosis for the prevention of blindness and other sequelae: five case reports with follow-up. [thejns.org]