Bosma arhinia microphthalmia syndrome
अंतिम अद्यतन 21 Mar 2023
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterised by abnormalities of the nose and eyes and problems with puberty.
विवरण
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterised by abnormalities of the nose and eyes and problems with puberty.
The key feature of BAMS is arhinia, which is the absence of an external nose. While most people with BAMS are born without a nose, some affected individuals have a severely underdeveloped (hypoplastic) nose. Affected individuals may also be missing the brain structure involved in the sense of smell (olfactory bulb). Because of these abnormalities, people with BAMS have an impaired ability to smell and, consequently, to taste.
In most people with BAMS, the eyeballs are abnormally small (microphthalmia) or absent (anophthalmia), which causes severe vision impairment or blindness. Additional eye abnormalities common in BAMS include a gap or hole in one of several structures of the eye (coloboma) and clouding of the lenses of the eyes (cataracts).
Additional head and face abnormalities that can occur in people with BAMS include a high arch or opening in the roof of the mouth (high-arched or cleft palate), absence of the sinuses behind the nose (paranasal sinuses), blockage of the nasal passages (choanal atresia), narrowing of the tear ducts (nasolacrimal duct stenosis), or a small upper jaw (hypoplastic maxilla). Many of these abnormalities contribute to difficulty breathing, particularly in affected babies. Some affected individuals have abnormal external ears.
Individuals with BAMS also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, these hormone problems often result in delayed puberty. Affected males may also have underdeveloped reproductive tissues and undescended testes (cryptorchidism).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Arhinia choanal atresia microphthalmia
Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism
BAM syndrome
BAMS
Bosma syndrome
Gifford-Bosma syndrome
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Ruprecht Majewski syndrome
Related patient information and medicines
Patient information leaflet
एहलर्स-डानलोस सिंड्रोम
यह Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syn... Periodontal Ehlers-Danlos syndrome Periodontal EDS (pEDS) causes dental problems,.
Patient information leaflet
पोस्ट-कन्सशन सिंड्रोम
Concussion is an injury to your brain that can occur after a minor head injury. पोस्ट-कन्सशन सिंड्रोम is a collection of symptoms that some people develop after they have had concussion. It is a complication of concussion. Common symptoms of post-concussion syndrome can include headache, dizziness and memory and concentration problems. Symptoms.
Patient information leaflet
डाउन सिंड्रोम
Down's syndrome (also known as Down syndrome) है a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.
Patient information leaflet
स्जोग्रेन सिंड्रोम
Sjögren's syndrome is an autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
Patient information leaflet
क्री डू चैट सिंड्रोम
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
नेफ्रोटिक सिंड्रोम
नेफ्रोटिक सिंड्रोम is a condition where the 'filters' in the और become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
अधिक पठन और संदर्भ
- Bosma arhinia microphthalmia syndrome; MedlinePlus, National Library of Medicine.
- Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. Am J Med Genet A. 2016 May;170A(5):1302-7. doi: 10.1002/ajmg.a.37572. Epub 2016 Feb 3.
- Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmuller J, Dion C, Thiele H, Gurzau AD, Nurnberg P, Meschede D, Muhlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschke P, Ragge N, Levy N, Tuncbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.
- Jansz N, Chen K, Murphy JM, Blewitt ME. The Epigenetic Regulator SMCHD1 in Development and Disease. Trends Genet. 2017 Apr;33(4):233-243. doi: 10.1016/j.tig.2017.01.007. Epub 2017 Feb 20.
- Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, Garcia-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Muhlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.