Last updated:
1/30/2026
Years published: 2017, 2020, 2024, 2026
NORD gratefully acknowledges Natalie Shaw, MD, MMSc, NIH Lasker Clinical Research Scholar, National Institute of Environmental Health Sciences, 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, and Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders, for their assistance in the preparation of this report.
Summary
Bosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic disorder defined by three major features: 1) complete absence of the nose (arhinia) 2) eye abnormalities and 3) lack of typical sexual development during puberty (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 and/or blindness.
In males, BAM syndrome may cause underdeveloped genitalia at birth, including a small penis and/or testes that do not descend properly into the scrotum. In females, reproductive differences are usually not noticeable until adolescence when she does not develop breasts or have menstrual periods.
The only known genetic cause of BAM syndrome is a change (variant) in the SMCHD1 gene. In most cases, this genetic change occurs spontaneously in the egg or sperm cell and is not inherited from either parent.
Fewer than 100 people worldwide have been reported with BAM syndrome over the past century, making it an exceptionally rare condition.
Treatment focuses on managing symptoms. Surgery is often needed to address the absence of the nose and eye-related differences. Hormone replacement therapy (testosterone or estrogen replacement) can help support sexual typical development during adolescence.
Despite significant facial differences, most people with BAM syndrome typically have normal to above average intelligence and live happy, productive lives.
Introduction
The complete absence of the nose from birth (congenital arhinia) was first described in the French literature in the 1800s. A handful of additional patients with congenital arhinia, some with and some without eye defects, were reported in the early to mid-1900s.
In the late 20th century, Dr. James Bosma, a pediatrician and researcher at the National Institute of Dental Research 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 person with congenital arhinia has been the first and only one affected in their family. However, there have been several reports of multiple affected people 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.
BAM syndrome is a recognizable syndrome with characteristic or “core” 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 (how a condition is expected to affect a person over time). Therefore, it is important to note that affected individuals may not have all the symptoms discussed below, or they may have symptoms that are not discussed. Every person 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.
The main features of BAM syndrome include:
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. De novo means it is a new, spontaneous change that is not inherited from a parent. Rarely, an SMCHD1 gene variant can be inherited from a parent.
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 can cause a rare form of muscular dystrophy, called facioscapulohumeral muscular dystrophy, specifically facioscapulohumeral dystrophy type 2 (FSHD2). 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.
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 the SMCHD1 gene 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. 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.
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 (from birth) 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 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 where a tissue blocks the nasal airway, cleft palate, etc.) can be surgically corrected, and new technologies are allowing surgeons to create much more cosmetically appealing nasal prostheses (artificial noses) for these children.
Some babies need oxygen and a breathing tube (oral airway or tracheostomy), at least temporarily. Choanal atresia (a tissue blocking the nasal airway) may result in breathing problems and 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.
Achieving the best possible results in nasal reconstruction involves carefully balancing how the nose functions with how it looks. Traditional surgical methods, such as using cartilage grafts and skin flaps, have improved greatly over the years and have helped many patients. However, these approaches can still present challenges, including discomfort and/or scarring at the tissue donor site (the area of the body where tissue is taken to be used for nose reconstruction), difficulty maintaining long-term structural support, and preserving normal nasal function over time.
Recent advances in custom-made nasal implants using three-dimensional (3D) imaging and 3D printing have brought important improvements to this area of care.
Eye problems such as cataract, coloboma (an area of missing tissue in the eye present at birth), and tear ducts may need surgery.
Many boys and girls with BAM syndrome require hormone replacement therapy to go through puberty. A pediatric endocrinologist (a specialized doctor who diagnoses and treats disorders of the glands and organs that produce hormones) can help with this treatment.
Most patients will require ongoing medical care from a team of medical and surgical sub-specialists, including plastic or maxillofacial (head, neck, face and jaw) 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 https://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:
Tollfree: (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: http://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.
JOURNAL ARTICLES
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.
Chowdhury R, Al-Musaileem N, Raman KS, Al-Majid D, Solomon P, Rival R. 3D Printing in Nasal Reconstruction: Application-Based Evidence on What Works, When, and Why. Biomedicines. 2025;13(6):1434. Published 2025 Jun 11. doi:10.3390/biomedicines13061434
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.
Inoue K, Bostan H, Browne MR, et al. DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose. Sci Adv. 2023;9(7):eabq7744. doi:10.1126/sciadv.abq7744
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.
Patterson KJK, Graham JM Jr, Shaw ND. Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome. Am J Med Genet A. 2025;197(11):e64127. doi:10.1002/ajmg.a.64127
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.
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.
NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.
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 NORD’s 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.
Please complete this form to access the requested resource.
