What is Binder Syndrome (Binder Type Nasomaxillary Dysplasia)?

Introduction
Causes and Symptoms of Binder Syndrome
Epidemiology of Binder Syndrome
Association with Chondrodysplasia Punctata
Diagnosis and Treatment of Binder Syndrome
References

Binder syndrome, also known as nasomaxillary dysplasia or maxillo-nasal dysostosis, is a rare congenital condition causing developmental defects. Although the true etiology is unknown, it is most likely multifactorial. It has distinct impacts on facial characteristics, significantly affecting the front region of the maxilla and the nasal complex. A "dish-face" deformity and a retruded flat nose describe this congenital abnormality.

Zuckerkandl was the first to describe this syndrome in 1882. In 1939, Noyes described a patient with a retruded nasomaxillary base and a flat nasal tip. Although, the syndrome was not recognized until Binder published a full report on three unrelated youngsters in 1962. He noted six distinct clinical features: an arhinoid face, intermaxillary hypoplasia, nasal bone abnormalities, and nasal mucosa atrophy.

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Causes and Symptoms of Binder Syndrome

Binder syndrome is a type of condition that can emerge on its own. The majority of occurrences, however, are linked to genetic diseases such the Xp22.3 deletion and cholesterol problems. This syndrome is also linked to vitamin K insufficiency and alloimmune maternal illnesses, including systemic lupus erythematosus. Reports link Binder's syndrome to maternal warfarin and alcohol consumption during the first trimester of pregnancy.

There have been rare instances of family recurrence of the syndrome (among siblings or parents and children); in one study, 36 percent of the individuals had a positive family history. This points to an autosomal recessive inheritance pattern with little penetrance or multifactorial inheritance.

A deficiency in the rear or anterior wall of the atlas or axis, fused vertebrae, and persistence of the chorda dorsalis can occur in 50% of people with cervical spine malformations. There have also been reports of a distinct odontoid process, spina bifida occulta, and moderate scoliosis and/or kyphosis.

Underdevelopment of the center area of the face (hypoplasia), particularly the nose and upper jaw, characterizes the Binder type of nasomaxillary dysplasia (nasal maxillary region). This causes an arhinoid face, characterized by a short, flat nose with a flattened nasal bridge, an improperly positioned nasal bone (more vertical than usual), and an overall flattened midface.

The nasal septum is very small, and the nostrils are shaped like a half-moon, comma, or triangle. The frontal sinuses are often missing. The nostrils may be triangular if the hypoplasia is severe. Dental abnormalities are common, mainly due to malocclusion, and can cause crowding and shifts in tooth locations. In one patient, amelogenesis imperfecta was discovered.

Epidemiology of Binder Syndrome

Binder's syndrome affects both men and women equally. The syndrome is uncommon, which may explain why little is known about its underlying genesis, inheritance patterns, and genuine prevalence.

Association with Chondrodysplasia Punctata

The prevalence of Binder syndrome is unknown since it is frequently misdiagnosed as X-linked chondrodysplasia punctata due to comparable facial deformities. A deficit of the Golgi enzyme ARSE, whose gene is found in Xp22.3, causes X-linked chondrodysplasia punctata, a congenital condition of bone and cartilage growth. Pneumonia, cervical spine compression, mental retardation, strabismus, and ichthyosis are all symptoms of this condition.

Binder syndrome is also thought to be a minor type of chondroplasia punctata. Because it is unclear whether Binder syndrome is a real syndrome or a phenotypic of anomalies involving the nasomaxillary areas, chondrodysplasia punctata must be addressed when prenatal ultrasound findings similar to Binder syndrome are detected.

Diagnosis and Treatment of Binder Syndrome

Similar facial features in other syndromes, such as Warfarin embryopathy, Down syndrome, Apert syndrome, and others, are used to make the differential diagnosis for Binder's syndrome. During fetal ultrasonogram (USG) exams, these syndromes are frequently misdiagnosed. Beginning in the 21st week of pregnancy, Binder's syndrome can be easily detected with 2D and 3D ultrasounds. Nasal abnormalities are found in 1 in 1600 fetuses and may play a significant role in the early detection of congenital illnesses and syndromes.

It's also worth noting that Down syndrome is frequently linked to Binder's syndrome. According to reports, around 12% of patients with trisomy 21 do not have a nasal bone. The score is much higher among aborted Down syndrome fetuses, with abnormalities in the nasal bone found in 60% of those (in 26%, the nasal bone is absent, and in 36%, it is hypoplastic).

Surgical treatment for Binder's syndrome is mainly confined to nasal dorsum restoration and is usually performed by plastic surgeons. The type of surgery is determined based on facial deformity. Orthodontic treatment is frequently followed by surgical repair of nasal and maxillary defects. The severity of the malocclusion determines the orthodontic treatment plan. When compensatory effects in the dental arches are present, orthodontic treatment may not be required in mild situations.

Binder's syndrome is a rare congenital deformity that affects the face mostly. Treatment planning necessitates nose reconstruction first and foremost, although additional medical services (such as orthodontic and orthognathic treatment) may also be required. The child should be placed under the care of a plastic surgeon and an orthodontist right after birth. The timing and types of surgeries used to treat nasomaxillary dysplasia patients are determined by the degree of the deformity and are scheduled individually.

References:

• Gupta, A., Aneja, A., Bahl, N. et al. (2021). Prenatal Binder Phenotype: Physician's Dilemma-A Case Report. J. Fetal Med. 8, 65–70. https://doi.org/10.1007/s40556-020-00283-2
• Blask, A. R., Rubio, E. I., Chapman, K. A., Lawrence, A. K., & Bulas, D. I. (2018). Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata. Pediatric radiology, 48(7), 979–991. https://doi.org/10.1007/s00247-018-4098-8
• Araujo Júnior E., Tonni G., Sepulveda W. (2017). Binder Syndrome: Prenatal Diagnosis, Management, and Prognosis. In: Tonni G., Sepulveda W., Wong A. (eds) Prenatal Diagnosis of Orofacial Malformations. Springer, Cham. https://doi.org/10.1007/978-3-319-32516-3_12
• Venkatesh A, Anuradha B, Karthick A, Mouli P. E. C, Ramasamy M. (2016). Binder's Syndrome – A Rare Case Report and Review of Literature with Detailed Treatment Plan. Biomed Pharmacol J. 9(3).
• Deshpande, S. N., & Juneja, M. H. (2012). Binder's syndrome (maxillonasal dysplasia) different treatment modalities: Our experience. Indian journal of plastic surgery: official publication of the Association of Plastic Surgeons of India, 45(1), 62–66. https://doi.org/10.4103/0970-0358.96588
• Jain, U., Thakur, G., & Kallury, A. (2011). Binder's syndrome. BMJ case reports, 2011, bcr0820114665. https://doi.org/10.1136/bcr.08.2011.4665

Further Reading

• All Rare Disease Content
• What is a Rare Disease?
• Importance of Research into Rare Disease
• Teaching old drugs new tricks – drug repurposing for rare diseases
• What is Adenomyosis?

Written by

Emily Henderson

During her time at AZoNetwork, Emily has interviewed over 300 leading experts in all areas of science and healthcare including the World Health Organization and the United Nations. She loves being at the forefront of exciting new research and sharing science stories with thought leaders all over the world.