Common phenotypic features of brachycephalic patients are an abnormally high ratio of maximal biparietal to fronto-occipital distance, prominent forehead, and flattened occiput. Severe brachycephaly is generally diagnosed at birth, but milder forms of the disease may not manifest until childhood. Although a more harmonious restriction of calvarial growth may not attract attention during infancy, the reduction of a patient's intracranial volume may interfere with development and cognitive function [7]. Thus, mental retardation, visual and hearing impairment as well as other neurological deficits may become apparent during childhood. The causes of cognitive disorders are manifold; vision loss, for instance, has been related to corneal exposure, optic neuropathy, and amblyopia [8].

Of note, additional symptoms are likely to be observed in patients suffering from syndromic brachycephaly. It is beyond the scope of this article to describe the clinical presentation of these entities, and the interested reader is referred to available reviews [5]. The absence of anomalies of hands and feet, in turn, is highly indicative of non-syndromic brachycephaly.

• Failure to Thrive

  Failure to thrive is common. Most patients have seizures of a tonic-clonic or atonic type which may be controlled with medication. Microcephaly, brachycephaly, plagiocephaly, and brachycephaly have been described. [disorders.eyes.arizona.edu]

• Hearing Impairment

  Thus, mental retardation, visual and hearing impairment as well as other neurological deficits may become apparent during childhood. [symptoma.com]

  Among patients carrying the P250R mutation, females are more severely and more frequently affected than males (female to male ratio of 2:1) and mild hearing impairment is common. [orpha.net]

• Cranial Asymmetry

  The authors conclude that orthotic therapy is a safe and effective therapeutic modality for position cranial asymmetries. [ncbi.nlm.nih.gov]

  Treatment generally takes 3–4 months, but varies depending on the infant’s age and severity of cranial asymmetry. Clinical consultation is available through our staff of ABC certified orthotists. In conjunction with David F. [orthomerica.com]

A three-dimensional reconstruction of the patient's skull may be achieved by means of computed tomography or magnetic resonance imaging. Typical results comprise limited growth of the anterior fossa, prominent elliptical orbits commonly referred to as harlequin eyes, and an increased interorbital distance [9]. Bulging of temporal fossae, upper and midface hypoplasia, as well as exorbitism, are common, particularly in patients suffering from syndromic brachycephaly.

Similarly, diagnostic imaging is indicated to identify concomitant pathologies such as the premature closure of additional sutures, and complications of brachycephaly like hydrocephalus. Patients should be subjected to a thorough ophthalmological examination to assess whether they are suffering from increased intracranial pressure and to evaluate vision. An evaluation of the patient's hearing ability may set the grounds for corresponding therapeutic measures. Both conductive hearing loss and sensorineural hearing loss may be present [10]. The patient's stage of mental development should also be determined.

This treatment offers too high levels of satisfaction to parents and brings these children closer to normal indices. [ncbi.nlm.nih.gov]

The choice of treatment modality is an active area of research (5). [scielo.br]

The treatment has an average duration of 4 months. It is advisable to treat brachycephaly as early as possible. Learn more at more about the treatment. [plagiocefalia.com]

Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. [ninds.nih.gov]

Primary, single-suture craniosynostosis patients tend to do very well In secondary form, prognosis is dependent on underlying cause Scaphocephaly. [learningradiology.com]

The prognosis is great for those with no congenital/genetic issues and we strive to work in conjunction with your other clinicians. If your child has a skull asymmetry we may be able to help and/or make a proper referral. [mychildwellness.com]

Prognosis The intellectual outcome of patients after cranial expansion surgery is usually good. [orpha.net]

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. [youmemindbody.com]

Treatment choice depends on the etiology of the problem and its severity, as well as on the age of the infant. Available options include training for the parents/caregivers, physical therapy, custom head orthosis and surgical intervention. [ncbi.nlm.nih.gov]

Etiology The extent to which nonsyndromic brachycephaly is genetically determined is still uncertain. [orpha.net]

Brachycephaly, in turn, is known to have the same etiology and refers to bilateral occipital flattening (4-8). [scielo.br]

Plagiocephaly and torticollis: etiology, natural history, and helmet treatment. J Pediatr 1981 ; 98 : 92 -5. ↵ Mulliken JB, Vander Woude DL, Hansen M, LaBrie RA, Scott RM. Analysis of posterior plagiocephaly: deformational versus synostotic. [doi.org]

Summary Epidemiology Incidence at birth is in the range of 1/20,000. Clinical description The skull deformity is characterized by a short anteroposterior diameter with a compensatory increase in bitemporal width. [orpha.net]

This may explain a large part of the pathophysiology. [research-projects.uzh.ch]

There are concerns that parents who are worried about their infants' head shapes may reject SIDS prevention guidelines. [researchspace.auckland.ac.nz]

This study confirms the need for early corrective surgery before 1 year of age in brachycephalic patients to prevent impairment of their mental development. [ncbi.nlm.nih.gov]

Consider physiotherapy if your child is only able to turn their head one way; tight neck muscles may be preventing them from turning their head to the other side. [knowyourdoctor.com.cy]

Preventive Counseling To prevent the deformity, parents should be counseled during the newborn period (by 2 to 4 weeks of age) when the skull is maximally deformable. [doi.org]

Brachycephaly refers to skull deformities characterized by an increased ratio of the skull's biparietal to fronto-occipital diameter. This parameter may be designated as the cranial proportional index, and brachycephaly is diagnosed in individuals whose cranial proportional index is above the 95th percentile [1]. Brachycephaly is a type of craniosynostosis [2]. In affected individuals, the premature closure of both coronal sutures impedes the skull to achieve full development in the anterior-posterior plane, while biparietal growth is unaltered or enhanced. However, biparietal growth doesn't usually compensate for brachycephaly and the intracranial volume of an affected individual remains diminished. This may lead to increased intracranial pressure, brain function impairment, developmental delays, and neurological deficits. Early surgery is required to avoid irreversible lesions. Frontoorbital advancement is the technique of choice to perform a frontal reconstruction in brachycephalic individuals [3].

Brachycephaly may be diagnosed in patients suffering from syndromes such as Apert syndrome, Carpenter syndrome, craniofrontonasal syndrome [4], Muenke syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, and Smith-Magenis Syndrome [5] [6], or may constitute a disease without any associated syndromes [7].

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2. Khanna PC, Thapa MM, Iyer RS, Prasad SS. Pictorial essay: The many faces of craniosynostosis. Indian J Radiol Imaging. 2011;21(1):49-56.
3. Garza RM, Khosla RK. Nonsyndromic craniosynostosis. Semin Plast Surg. 2012;26(2):53-63.
4. Toral-López J, González-Huerta LM, Messina Baas O, Cuevas-Covarrubias SA. A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype. Mol Syndromol. 2016;7(1):32-36.
5. Panigrahi I. Craniosynostosis genetics: The mystery unfolds. Indian J Hum Genet. 2011;17(2):48-53.
6. Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014;2(3):135-145.
7. Vinchon M, Pellerin P, Baroncini M, Wolber A, Dhellemmes P. Non-syndromic oxycephaly and brachycephaly: a review. Childs Nerv Syst. 2012;28(9):1439-1446.
8. Nischal KK. Visual surveillance in craniosynostoses. Am Orthopt J. 2014;64:24-31.
9. Kim HJ, Roh HG, Lee IW. Craniosynostosis : Updates in Radiologic Diagnosis. J Korean Neurosurg Soc. 2016;59(3):219-226.
10. Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 2014;78(12):2037-2047.