Presentation
ORPHA:1134 Synonym(s): Isolated nose agenesis Prevalence: Inheritance: Not applicable Age of onset: Neonatal, Antenatal ICD-10: Q30.1 OMIM: - UMLS: C0265740 MeSH: C537438 GARD: 364 MedDRA: - The documents contained in this web site are presented for information [orpha.net]
However, there is variability in the presentation of this disease; arrhinia is the most constant clinical feature, which is then combined with a spectrum of anophthalmia/microphthalmia and/or hypogonadism. [ncbi.nlm.nih.gov]
Presentation on theme: "Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham. [slideplayer.com]
Entire Body System
- Vietnamese
Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian) தமிழ் (Tamil) Türkçe (Turkish) తెలుగు (Telugu) ภาษาไทย (Thai) Tiếng Việt (Vietnamese [synonyms.net]
- Turkish
Deutsch (German) العربية (Arabic) Français (French) Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian) தமிழ் (Tamil) Türkçe (Turkish [synonyms.net]
Respiratoric
- Stridor
Patterson Stevenson Syndrome Renal and Mullerian Duct Hypoplasia Respiratory System Abnormalities Rhiny Saito Kuba Tsuruta Syndrome Schlegelberger Grote Syndrome situs inversus Skin Abnormalities Sprengel Deformity Stomatognathic System Abnormalities Stridor [rgd.mcw.edu]
Gastrointestinal
- Gagging
Taking it out to try would mean it would need to be re-inserted in time for her next tube feed and since passing a tube down her throat made her gag and often vomit it all seemed like a catch 22 situation. It left me conflicted and confused. [birthingandbreastfeeding.wordpress.com]
Jaw & Teeth
- Anterior Open Bite
E, Anterior open bite, inverted VYshaped maxilla, and decreased distance between the incisor edges. F, Retention plate displacement and nasofrontal bone segment distraction, the arrow shows osteotomy over the zygomatic body. * 2014 Mutaz B. [docksci.com]
Eyes
- Blepharoptosis
Syndrome Schlegelberger Grote Syndrome situs inversus Skin Abnormalities Sprengel Deformity Stomatognathic System Abnormalities Stridor, Congenital thyroid malformation Urogenital Abnormalities Vagina, Absence of Vertebral Fusion Posterior Lumbosacral Blepharoptosis [rgd.mcw.edu]
Musculoskeletal
Neurologic
- Nystagmus
the unerrupted canines, the flattened fronto-nasal process, the obliteration of the cribriform plate, the dysplasia in the root of the eyebrows, the transverse hypoplasia of the upper lip, the frequency of microphthalmia, colobomas of the iris and nystagmus [tandfonline.com]
Workup
Imaging studies in the diagnostic workup of neonatal nasal obstruction. J Comput Assist Tomogr. 2001;25(4):540. [shahfacialplastics.com]
Treatment
In this article, we describe 2 surgical techniques to treat arrhinia depending on the age at the beginning of treatment. [ncbi.nlm.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]
Prognosis
If diagnosed at appropriate gestational age, parents can have a choice of termination of pregnancy as prognosis of such children is poor in terms of mental and physical development as well as cosmetic and functional outcomes. [obgynupdated.blogspot.com]
Prognosis The prognosis following the surgical resection of nasal encephaloceles and nasal gliomas is generally good. However, a recurrence rate of 4–10% exists as a result of the incomplete resection of nasal gliomas. Chang KC, Leu YS. [shahfacialplastics.com]
Prenatal diagnosis has been reported in only one case during the second trimester of pregnancy.[ 5 ] Prognosis of such children is poor in terms of mental and physical development as well as cosmetic and functional outcomes. [ncbi.nlm.nih.gov]
Etiology
Synonyms bosma-henkin-christiansen syndrome hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism Etiology Please input defination information here. Diagnosis Please input defination information here. [pediascape.org]
Nose underdevelopment - etiology, diagnosis and treatment. [unboundmedicine.com]
Conclusion Congenital arhinia is an extremely rare condition of unknown etiology. Facial anomalies and other concomitant distant anomalies may be present. These patients experience serious problems with regard to an open airway and feeding. [jmedicalcasereports.com]
Pathophysiology
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Prevention
Our first patient did not require any additional surgery when facial growth was completed because of the age in which the LF III osteotomy was performed and because overcorrection with DO prevented a pseudorelapse. [docksci.com]
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