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.
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. Boys with BAM syndrome may be born with underdeveloped genitals (small penis and/or testes that have not descended properly into the scrotum). If a girl with BAM syndrome has problems with her reproductive system, it will only become apparent in her 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 in the gene SMCHD1. In the majority of cases, this change occurs spontaneously in the egg or sperm cell and is not inherited from the parents.
The complete absence of the nose from birth (congenital arhinia) was first described in the French literature in the 1800’s. A handful of additional patients with congenital arhinia, some with and some without eye defects, were reported in the early to mid-1900’s. Dr. James Bosma, a pediatrician and researcher at the National Institute of Dental Health, however, 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 his or her 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.
Although researchers have been able to delineate a recognizable syndrome with characteristic or “core” symptoms, 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 case is unique and the disorder can be different in one child when compared to another. Parents should talk to their child’s 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 aren’t 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.
• A coloboma is a cleft in or failure to close the eyeball during fetal development. This can result in a keyhole-shaped pupil (iris coloboma) and/or abnormalities in the retina, macula or optic nerve. Coloboma of the retina or optic nerve may cause vision loss, including blind spots, problems with depth perception or legal blindness. Many children with coloboma are sensitive to bright light. They may experience retinal detachment over time.
• A cataract is a clouding of the lens of the eye (which is normally clear) at birth. Cataracts can cause poor vision but eye doctors can do surgery to fix them.
• Tear ducts normally drain tears from the eyes to the nose. If tear ducts are absent, patients may have excessive tearing. If tear ducts are narrow, bacteria may collect in them, causing infections. Tear ducts can be opened up with surgery.
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 the gene that is altered in most patients with BAM syndrome is the SMCHD1 gene. BAM syndrome is usually caused by a spontaneous (de novo) change in SMCHD1 that occurs in the egg or sperm cell. In such situations, it is not inherited from the parents. Rarely, the abnormal gene can be inherited as an autosomal dominant trait.
Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
Researchers believe that having a change in SMCHD1 is necessary but not sufficient to develop BAM syndrome. This is because there are families, for example, where a child with BAM inherited a change in SMCHD1 from his mother who has a very mild form of BAM (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 has the ability to 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. 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 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 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. However, studies in animals have suggested that high blood sugar, alcohol, and retinoic acid may cause holoprosencephaly, a severe congenital disorder whose features 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, eye defects and genital/hormone defects. Molecular genetic testing for changes in the SMCHD1 gene that are associated with BAM is available at specialized laboratories.
Although children with BAM may require intensive medical support early in life because of difficulty breathing and feeding, 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 may be of benefit for affected individuals and their families. Due to the rarity of BAM, 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:
For information about clinical trials sponsored by private sources, contact:
For information about clinical trials conducted in Europe, contact:
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
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 patient registry.
Albernaz VS, Castillo M, Mukherji SK & Ihmeidan IH Congenital arhinia. AJNR Am J Neuroradiol. 1996:17:1312-4.
Ali M.J. Bilateral lacrimal mucoceles in a setting of congenital arhinia. Ophthal Plast Reconstr Surg. 2014:30:e167.
Ali MJ, Singh S, and Naik MN. Image-guided lacrimal drainage surgery in congenital arhinia-micropthalmia syndrome. Orbit 2017:1-7.
Ali MJ, Singh S, Naik MN.Image-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome. Orbit. 2017 Jun;36(3):137-143. doi: 10.1080/01676830.2017.1280059. Epub 2017 Mar 8. Review.
Banks PA and Robinson MJ. Nasal agenesis–a modified oral appliance to aid neonatal airway patency and to support oro-enteric intubation. Eur J Orthod. 1988;10:137-42.
Baraka ME, Alumran K, Alfaraidy A and Dawodu AH. Congenital absence of the nose (ahrinia). Saudi Medical Journal 1991:12:514-516.
Becerra-Solano LE et al. Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. Clin Dysmorphol. 2016:25:12-5.
Berger M and Martin C [Total arhinogenesis (congenital absence of the nose and the nasal fossae) apropos of an unusual case]. Rev Laryngol Otol Rhinol (Bord) 1969:90:300-19.
Berndorfer A. Über Die Seitliche Nasenspalte. Acta Oto-Laryngologica 1962:55:63-174.
Biswas K, Dutta S, Ghatak S and Sinha R. Congenital complete arhinia: Report of a rare case. IJSS Case & Reviews 2014;1:8-10.
Blair V & Brown JB Nasal abnormalities, fancied and real. Surgery, Gynecology and Obstetrics 1931;53:796-819.
Borghi A, Ruggiero F, Tenhagen M, et al. Design and manufacturing of a patient-specific nasal implant for congenital arhinia: Case report. JPRAS Open. 2019 Jun 12;21:28-34.
Bosma JF, Henkin RI, Christiansen RL and Herdt JR Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. J Craniofac Genet Dev Biol. 1981;1:153-84.
Brasseur B, Martin CM, Cayci Z, Burmeister L and Schimmenti LA. Bosma arhina microphthalmia syndrome: Clinical report and review of the literature. Am J Med Genet. 2016;May;170A(5):1302-7.
Brusati, R., Donati, V., Marelli, S. & Ferrari, M. Management of a case of arhinia. J Plast Reconstr Aesthet Surg. 2009;62:e206-10.
Calli LJ, Jr. Ocular hypertelorism and nasal agenesis (midface syndrome) with limb anomalies. Birth Defects Orig Artic.1971;Ser 7:268.
Cesaretti C, et al. Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations. Clin Dysmorphol. 2011;20: 229-31.
Chmielik M and Ranocha C. Surgical and prosthetic treatment of congenital absence of the nose: a case report. Rhinology 1998;6:94-5.
Cho C.-H., Shakibaei M, Merker H-J and Klein M. The rare malformation of nasal aplasia. Mund-, Kiefer- und Gesichtschirurgie 2006;10:107-118.
Choi S, Shiozu H, Sato K & Nishida H. A case report of congenital arhinia. Acta Neonatologica Japonica 1998;34:83-86.
Chung D et al. Agenesia do nariz: relato de caso. Revista Brasileira de Otorrinolaringologia 2002;68:581-585.
Cohen D and Goitein K. Arhinia. Rhinology 1986;24:287-92.
Cole RR, Myer CM 3rd and Bratcher GO Congenital absence of the nose: a case report. Int J Pediatr Otorhinolaryngol. 1989;17:171-7.
Courtney J, McCabe J and Craig S. Congenital arhinia. Arch Dis Child Fetal Neonatal Ed 2014;99:F75.
Cusick W, Sullivan CA, Rojas B, Poole AE and Poole DA. Prenatal diagnosis of total arhinia. Ultrasound Obstet Gynecol. 2000;15:259-61.
Das Gupta HK, Gupta V and Gupta M. Absent nose. British Journal of Plastic Surgery 1979;32: 85-86.
Davis WB Congenital deformities of the face; types found in a series of 1000 cases. Surgery, Gynecology and Obstetrics 1935;61:201-209.
Delaney A, Volochayev R, Meader B, et al. Insight into the ontogeny of GnRH neurons from patients born without a nose. J Clin Endocrinol Metab. 2020 Feb 8. pii: dgaa065. doi: 10.1210/clinem/dgaa065. [Epub ahead of print]
Fakhraee SH, Nariman S and Taghipour R. Congenital arhinia: case report of a rare congenital anomaly. Arch Iran Med. 2011;14:355-6.
Fatin M. A rare case of congenital malformation; total absence of half the nose; probably supporting the theory of bilateral nasal origin. J Egypt Med Assoc.1955;38:470-5.
Feledy JA, et al. Vertical facial distraction in the treatment of arhinia. Plast Reconstr Surg. 2004;113:2061-6.
Fuller AK, McCrary HC, Graham ME, Skirko JR. The case of the missing nose: congenital arhinia case presentation and management recommendations. Ann Otol Rhinol Laryngol. 2020 Feb 26:3489420909415. doi: 10.1177/0003489420909415. [Epub ahead of print]
Galetti R, Dallari S, Bruzzi M, Vincenzi A and Galetti G. [Considerations concerning respiratory physiopathology in a case of total arhinia]. Acta Otorhinolaryngol Ital.1994;14:63-9.
Gifford GH, Jr, Swanson L and MacCollum DW. Congenital absence of the nose and anterior nasopharynx. Report of two cases. Plast Reconstr Surg.1972;50:5-12.
Goossens IC, Kemp PL, Bredell MG and Sykes LM. Implant retained nasal prosthesis for a child with congenital arhinia–a case report. Sadj 2008;63:390-2.
Gordon CT, et al. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics 2017;49:249-255.
Goyal A, Agrawal V, Raina VK and Sharma D. Congenital arhinia: A rare case. J Indian Assoc Pediatr Surg. 2008;13:153-4.
Graham JM, Jr. and Lee J. Bosma arhinia microphthalmia syndrome. Am J Med Genet. 2006;A 140:189-93.
Hansen M, Lucarelli MJ, Whiteman DA and Mulliken JB. Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. Am J Med Genet. 1996;61:71-4.
Hernandez L. Embriología Nasal. in Memorias Segundo Seminario de Post-Grado en Cirugía Plástica. Cirugía Plástica de Nariz. 1977;Bogotá, abril 20-22:63-69.
Hou JW. Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2). Am J Med Genet. 2004;A 130a:200-3.
Hunter JD, Davis MA, and Law JR. Hypogonadotropic hypogonadism in a female patient with congenital arhinia. J Pediatr Endocrinol Metab. 2017;30:101-104.
Jung JW, Ha DH, Kim BY, et al. Nasal reconstruction using a customized three-dimensional-printed stent for congenital arhinia: Three-Year Follow-up. Laryngoscope. 2019 Mar;129(3):582-585. doi: 10.1002/lary.27335. Epub 2018 Sep 24
Kaminker CP, Dain L, Lamas MA and Sanchez JM. Mosaic trisomy-9 syndrome with unusual phenotype. American Journal of Medical Genetics 1985;22:237-241.
Kemble JV. The importance of the nasal septum in facial development. J Laryngol Otol.1973;87:379-386.
Kernahan DA. Types divers de malformations congénitales du nez. Ann Chir Plast. 1957;2:113-117.
Kilner P. Unusual congenital malformations of the face. Rev Chir Struct.1938;8:164-169.
Kitai N, et al. Craniofacial morphology in an unusual case with nasal aplasia studied by roentgencephalometry and three-dimensional CT scanning. Cleft Palate-Craniofacial Journal 2004;41:208-213.
LaTrenta GS, Choi HW, Ward RF, Hoffman L and Neidich JA. Complete nasal agenesis with bilateral microphthalmia and unilateral duplication of the thumb. Plast Reconstr Surg 1995;95:1101-4.
Lemmers RJ, eta al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012;44:1370-4.
Lemmers RJLF, van der Stoep N, Vliet PJV, et al.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26.
Li X, Zhang L and Wang F. Prenatal diagnosis of total arhinia by MRI. Jpn J Radiol. 2015;33:672-4.
Lutolf U. Bilateral aplasia of the nose: a case report. J Maxillofac Surg.1976;4:245-9.
Majewski S, Donnenfeld AE, Kuhlman K and Patel A. Second-trimester prenatal diagnosis of total arhinia. J Ultrasound Med. 2007;26:391-5.
Mao-Mao Z, Yang-Hong H, Wei H and Kui-Kui H. Congenital arhinia: a rare case. J Neonatal Surg. 2014;3;10.
Mathur NN, Dubey NK, Kumar S, Bothra R and Chadha A. Arhinia. Int J Pediatr Otorhinolaryngol. 2005;69:97-9.
Mazzola RF Congenital malformations in the frontonasal area: their pathogenesis and classification. Clinics in plastic surgery 1976;3:573-609.
McGlone L. Congenital arhinia. J Paediatr Child Health 2003;39:474-6.
Meng LJ, Huang ZL and Niu L. [Congenital arhinia: one case report]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2009;44:343-4.
Meyer R. Total external and internal construction in arhinia. Plast Reconstr Surg. 1977;99:534-42.
Morselli PG, Pistorale T and Cavina C. A Case Study of Arhinia in an Adolescent. Blue Bell, PA, USA: Wordplast 1996.
Muhlbauer W, Schmidt A and Fairley J. Simultaneous construction of an internal and external nose in an infant with arhinia. Plast Reconstr Surg.1993;91:720-5.
Mul K, Lemmers RJLF, Kriek M, et al. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.
Murawski E and Gajewski P. Congenital atresia of the anterior nares and hypoplasia of the nasal cavity. Otolaryngol Pol.1995;49:266-9.
Navarro-Vila C, et al. Congenital absence of the nose and nasal fossae. J Craniomaxillofac Surg. 1991;19:56-60.
Ng RL, Rajapathy K, Ishak Z. Congenital arhinia – first published case in Malaysia. Med J Malaysia. 2017 Oct;72(5):308-310.
Nishimura Y. Embryological study of nasal cavity development in human embryos with reference to congenital nostril atresia. Acta Anat (Basel) 1993;147:140-4.
Olsen OE, Gjelland K, Reigstad H and Rosendahl K. Congenital absence of the nose: a case report and literature review. Pediatr Radiol. 2001;31:225-32.
Onizuka T, Ohkubo F, Hosaka Y, Ichinose M and Okazaki K. Arhinia: a case report. World J Plast Surg. 1995;1:65-71.
Ozek C, et al. A case of total nasal agenesis accompanied by Tessier no. 30 cleft. Ann Plast Surg. 2001;46:663-4.
Palmer CR and Thomson HG. Congenital absence of the nose: a case report. Can J Surg. 1967;10:83-6.
Pérez AC, De La Vega C and Valencia- Salazar G. Arrinia congénita. Bol Med Hosp Infant Mex. 2001;58.
Pérez Silva O. Arrinia Ausencia Congénita Total de la Nariz. Revista Medicina, [S.l.] 2010;32:33-46.
Ruprecht KW and Majewski F. [Familiary arhinia combined with peters’ anomaly and maxilliar deformities, a new malformation syndrome (author’s transl)]. Klin Monbl Augenheilkd 1978;172: 708-15.
Sakai Y, Ohara Y and Inoue Y. Congenital complete absence of the nose. J Jpn Plast Reconstr Surg. 1989;9:265-273.
Sato D, et al. Congenital arhinia: molecular-genetic analysis of five patients. Am J Med Genet. 2007;A 143a:546-52.
Shaw ND, et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics 2017;49:238-248.
Shino M, Chikamatsu K, Yasuoka Y, Nagai K and Furuya N. Congenital arhinia: a case report and functional evaluation. Laryngoscope 2005;115:1118-23.
Shubich I and Sanchez C. Nasal aplasia associated with meningocele and submucous cleft palate. Ear Nose Throat J.1985;64:259-60.
Stricker M. Craniofacial malformations. Churchill Livingstone, Edinburgh; London, 1990.
Thiele H, Musil A, Nagel F and Majewski F. Familial arhinia, choanal atresia, and microphthalmia. Am J Med Genet.1996;63:310-3.
Thornburg LL, Christensen N, Laroia N and Pressman EK. Prenatal diagnosis of total arhinia associated with normal chromosomal analysis: a case report. J Reprod Med. 2009;54:579-82.
Tryggestad JB, Li S and Chernausek SD. Hypogonadotropic hypogonadism presenting with arhinia: a case report. J Med Case Rep. 2013;7:52.
van der Meulen JC, Mazzola R, Vermey-Keers C, Stricker M and Raphael B. A morphogenetic classification of craniofacial malformations. Plast Reconstr Surg. 1983;71:560-72.
Wahby, B. Abnormal Nasal Bones. J Anat Physiol. 1903;38:49-51.
Weinberg A, Neuman A, Benmeir P, Lusthaus S and Wexler MR. A rare case of arhinia with severe airway obstruction: case report and review of the literature. Plast Reconstr Surg. 1993;91:146-9.
Zhang MM, Hu YH, He W and Hu KK. Congenital arhinia: A rare case. Am J Case Rep. 2014;15:115-8.
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
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100