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Last updated: 5/20/2024
Years published: 2017, 2020, 2024
NORD gratefully acknowledges Natalie Shaw, MD, MMSc, NIH Lasker Clinical Research Scholar, National Institute of Environmental Health Sciences, and John M Graham, Jr., MD, ScD, Professor Emeritus of Pediatrics, Department of Pediatrics, Cedars-Sinai Medical Center; Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles CA, for the preparation of this report.
Summary
Bosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic disorder that has been reported in fewer than 100 patients worldwide in the past century. It is defined by three major features: 1) complete absence of the nose 2) eye defects and 3) absent sexual maturation. The specific symptoms and severity of the disorder can vary from one person to another. For example, eye problems can range from absent tear ducts (the small tubes that carry tears from the eyes to the nose) to very small eyes with blindness. Males with BAM syndrome may be born with underdeveloped genitals (small penis and/or testes that have not descended properly into the scrotum). If a female with BAM syndrome has problems with her reproductive system, it will only become apparent in the teenage years when she does not develop breasts or have menstrual periods. The nose and eye problems typically require surgery, and the reproductive problems can be treated with hormones (testosterone or estrogen replacement). Despite the severe facial problems, patients typically have normal to above average intelligence and live happy, productive lives. The only known genetic cause of BAM syndrome is a change (variant) in the SMCHD1 gene. In most patients, this change occurs spontaneously in the egg or sperm cell and is not inherited from the parents.
Introduction
The complete absence of the nose from birth (congenital arhinia) was first described in the French literature in the 1800โs. A handful of additional patients with congenital arhinia, some with and some without eye defects, were reported in the early to mid-1900โs. Dr. James Bosma, a pediatrician and researcher at the National Institute of Dental Health was the first to observe that these patients frequently had genital and reproductive hormone problems. In his 1981 report, he described two unrelated males (who were first reported by plastic surgeon Dr. George Gifford et al., 1972 with congenital arhinia, eye defects and genital defects (small penis and undescended testes at birth with no spontaneous sexual maturation). Nearly every patient with congenital arhinia has been the first and only one affected in their family. However, there have been several reports of multiple patients within the same family, the first by Klaus Ruprecht and Frank Majewski (1978) describing two German sisters with congenital arhinia and eye defects. Several terms have been used in the past for this syndrome to acknowledge the work of Drs. Gifford, Bosma, Ruprecht and Majewski.
Researchers have been able to delineate a recognizable syndrome with characteristic or โcoreโ symptoms, but much about this disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies and other factors have prevented physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below or may have symptoms that are not discussed. Every patient is unique, and the disorder can be different in one child when compared to another. Parents should talk to their childโs physicians and medical team about their specific case, associated symptoms and overall prognosis.
Children with BAM syndrome are born with a very small (hypoplastic) nose or no nose at all. They cannot smell because they are also missing the internal parts of the smell (olfactory) system, but they may be able to detect very strong, irritating odors. Babies who are born without a nose often have trouble breathing because it takes some time for them to learn how to breathe through their mouth and how to breathe and eat at the same time. Some, but not all, babies need oxygen and a breathing tube (oral airway or tracheostomy), at least temporarily. If the back part of the nasal airway is narrow or blocked (choanal atresia), this may also cause breathing problems which can be corrected with surgery. Babies who arenโt growing well may need a feeding tube (gastrostomy or G-tube). Plastic surgeons can help to build an external nose.
Children with BAM syndrome may have problems with vision and their eyes. This includes missing eyes (anophthalmia), abnormally small eyes (microphthalmia), coloboma, cataracts and absent or narrow tear ducts. In a study of nearly 40 patients with BAM syndrome, 77% of patients had anophthalmia or microphthalmia, 79% had coloboma, 53% had cataracts and nearly all had missing or narrow tear ducts. Six patients had no vision problems. There can be loss of vision with age.
Other common facial problems include cleft lip or cleft palate, abnormal external ears (too large or too small) and crowded or missing teeth.
It is very common for affected children to have genital abnormalities and/or an inability to make sex hormones. This is most likely because a part of the brain, called the hypothalamus, does not make the hormone GnRH (gonadotropin-releasing hormone). This hormone is required for the reproductive system to develop and function normally. Most boys have a small penis and undescended testes (cryptorchidism). Most boys and girls require hormone therapy to go through puberty. A pediatric endocrinologist can help with this treatment.
In 2017, two independent teams of researchers discovered that BAM syndrome is caused by a change (variant) in the SMCHD1 gene. The gene variant is usually a spontaneous (de novo) change in SMCHD1 that occurs in the egg or sperm cell. In such situations, it is not inherited from a parent. Rarely, an SMCHD1 gene variant can be inherited from a parent.
BAM syndrome follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Researchers think that having a variant in SMCHD1 is necessary but not sufficient to develop BAM syndrome. This is because there are families, for example, where a child with BAM syndrome inherited a variant in SMCHD1 from his mother who has a very mild form of BAM syndrome (for example, no sense of smell but no other defects) or has no medical problems at all. This suggests that the child has a change in a second critical gene, which may have occurred spontaneously or may have been inherited from the other parent, in this example, the father. This type of inheritance, called digenic inheritance, occurs when a change in more than one gene is required to cause disease. Researchers are still trying to identify these other genes.
The SMCHD1 protein is a gene repressor. This means it can turn other genes off. It is possible that the changes that occur in SMCHD1 in patients with BAM syndrome cause other genes that are important for developing a normal nose and eyes to be turned off at the wrong time. A recent paper also suggested that in BAM syndrome, loss of SMCHD1 protein activity may lead to the production of a toxic protein (called DUX4) that kills the precursors of the human nose. However, more research is needed to understand how changes in SMCHD1 activity cause BAM syndrome.
Several of the same changes in SMCHD1 that cause BAM syndrome have also been shown to cause a rare form of muscular dystrophy, called facioscapulohumeral muscular dystrophy type 2 (FSHD2; see NORD database). FSHD2 patients have not been reported to have any nose, eye, or reproductive problems, and researchers are still trying to understand if some BAM syndrome patients will develop signs of FSHD2 as adults, since FSHD2 is an adult-onset condition, with an average age of onset of 26 years.
There are no known environmental exposures during pregnancy that cause BAM syndrome. However, studies in animals have suggested that high blood sugar, alcohol, and retinoic acid may cause holoprosencephaly, a severe congenital disorder with features that may overlap with those of BAM (e.g., absent nose, anophthalmia or microphthalmia, cleft lip or cleft palate, hormone problems).
BAM syndrome is an extremely rare disorder that is known to affect patients from many different ethnic groups. As with many rare disorders, the exact incidence or prevalence of this disorder is unknown. The disorder probably goes misdiagnosed or undiagnosed making it difficult to determine the true frequency in the general population. Fewer than 100 people with this disorder have been reported in the medical literature.
Arhinia is apparent at birth and can sometimes be suspected prenatally. A medical geneticist, pediatrician, or other pediatric subspecialist should do a complete physical exam and order tests to look for the two other major features of BAM syndrome: eye defects and genital/hormone defects. Molecular genetic testing for variants in the SMCHD1 gene that are associated with BAM syndrome is available at specialized laboratories.
Treatment
Children with BAM syndrome may require intensive medical support early in life because of difficulty breathing and feeding, but they usually become healthy and productive citizens with normal life spans. Many of the structural abnormalities (choanal atresia, cleft palate, etc.) can be surgically corrected and new technologies are allowing surgeons to create much more cosmetically appealing nasal prostheses for these children. Two groups have published papers on a custom-made nasal implant made with a 3D printer. Most patients will require ongoing medical care from a team of medical and surgical sub-specialists, including plastic or maxillofacial surgeons, ophthalmologists (eye doctors) and endocrinologists (hormone doctors). Psychosocial support for the entire family is essential as well. Genetic counseling is recommended for affected individuals and their families. Due to the rarity of BAM syndrome, there are no standardized treatment protocols or guidelines for affected individuals.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
For more information about BAM syndrome contact:
Natalie Shaw, MD, MMSc
NIH Lasker Clinical Research Scholar
National Institute of Environmental Health Sciences
111 TW Alexander Drive
Bldg 101, A349, MD A2-03
Research Triangle Park, NC 27709
Phone: (919) 541-7798
Fax: (301) 451-5539
[email protected]
Dr. Shaw is a pediatric endocrinologist and clinical researcher. Her lab is investigating how changes in the SMCHD1 gene lead to BAM syndrome by studying patients and by using cellular models. She has worked closely with Grainne Evans to connect with patients and develop a BAM syndrome patient registry.
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INTERNET
Grainne Evans: Grainne is mom to Tessa Evans, an Irish girl with congenital arhinia and eye defects. She has a public Facebook page (https://www.facebook.com/pg/bornwithoutanose/about/?ref=page_internal), blog, and private Facebook group for patients with arhinia and their families.
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NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORDโs mission.
Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/No patient organizations found related to this disease state.
The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
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