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90 Possible Causes for Pharyngeal Hypoplasia

  • Mandibulofacial Dysostosis

    Pharyngeal hypoplasia is considered to be a primary feature of the syndrome and may aid in its diagnosis. ( Arch Otolaryngol 105:127-131, 1979)[jamanetwork.com] Progressive cranial basilar kyphosis associated with narrowing of the anteroposterior pharyngeal diameter and pharyngeal hypoplasia. Vertebral anomalies.[neuroradiologyonthenet.blogspot.com] MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance.[ncbi.nlm.nih.gov]

  • Primary Immune Deficiency Disorder

    DiGeorge’s syndrome • Also called thymic hypoplasia • Congenital disorder • Abnormalities in structure derived from 3rd and 4th pharyngeal pouches • Predominantly T cell defect[slideshare.net]

  • Erythroderma Desquamativum

    PHA Trisomy 2p Bronchopneumopathy KWE hypoplasia with omphalocele Pelizaeus-Merzbacher disease trisomy 2p Chromosome 2 Antigen-peptide-transporter Shprintzen-Goldberg omphalocele[yumpu.com] Larsen-like syndrome Laryngeal abductor paralysis mental Pelger-Huet anomaly trisomy 26-28 X chromosome Bronchogenic cyst Keratolytic winter erythema retardation Laryngeal and pharyngeal[yumpu.com]

  • Cleft Palate

    She had a pharyngeal flap 6 months later with successful correction of the velopharyngeal insufficiency.[ncbi.nlm.nih.gov] 16-year-old patient with no known history of cleft palate who developed velopharyngeal insufficiency after a Le Fort I osteotomy performed for the correction of maxillary hypoplasia[ncbi.nlm.nih.gov]

  • Rieger Syndrome

    Images of patient 1 with Axenfeld-Rieger syndrome. ( A ) Facial photograph showing maxillary hypoplasia, thin upper lip, and broad nasal bridge. ( B ) Left eye with corectopia[iovs.arvojournals.org] […] pharyngeal arches ( E ), and the anterior segment of the eye ( G, H ). ac, anterior segment of the eye; b, brain; di, diencephalon; e, eye; mb, midbrain; oc, oral cavity; pa, pharyngeal[iovs.arvojournals.org]

  • 17q11 Microdeletion Syndrome

    […] pouch syndrome, thymic aplasia) 22q11.21 Hypoplasia or lack of thymus and parathyroids, cardiac anomalies, cleft palate, intellectual disability, psychiatric problems Langer-Giedion[merckmanuals.com] […] chromosome at 15q11 Seizures, puppet-like ataxia, frequent laughter, hand flapping, severe intellectual disability DiGeorge syndrome (DiGeorge anomaly, velocardiofacial syndrome, pharyngeal[merckmanuals.com]

  • Florid Cemento-Osseous Dysplasia

    […] pouch syndrome Thymic alymphoplasia Thymic aplasia or hypoplasia with immunodeficiency vagina N89.3 ICD-10-CM Diagnosis Code N89.3 Dysplasia of vagina, unspecified 2016 2017[icd10data.com] Specific Code POA Exempt thymic, with immunodeficiency D82.1 ICD-10-CM Diagnosis Code D82.1 Di George's syndrome 2016 2017 2018 2019 Billable/Specific Code Applicable To Pharyngeal[icd10data.com]

  • Shaheen Syndrome

    The thymic hypoplasia, hypoparathyroidism, and cardiac anomalies originate from defective pharyngeal pouch development during embryogenesis.[jimmunol.org] Sixty percent of 22qDS patients have a thymic hypoplasia, resulting in a peripheral T cell lymphopenia.[jimmunol.org] The functional role of these RNAs is being addressed with viral knockdown approaches in fetal thymic organ and pharyngeal pouch explant cultures.[jimmunol.org]

  • Goldberg-Shprintzen Syndrome

    Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome.[med2000eco.it]

  • Pierre Robin Syndrome

    hypoplasia. [17] Other entity frequently seen in PRS; gastroesophageal reflux disease (GERD) during infancy may also worsen the degree of OSA. [18] In children with PRS,[thoracicmedicine.org] The upper airway obstruction caused by different mechanisms including anatomical abnormalities and mechanical collapse of the pharyngeal wall, [3], [16] as well as maxillary[thoracicmedicine.org]

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