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224 Possible Causes for Atretic Ear Canals, Micrognathism, Thick Wiry Hair

  • Goldenhar Syndrome

    , preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, mandibular[ncbi.nlm.nih.gov] The inner ear was normal. The facial nerve canal showed a normal course. On the right side, multiple anomalies were detected.[ajnr.org] We report on wide phenotypic variations within a family with SALL1 mutations; the elder sister presented with a Townes-Brocks syndrome phenotype including external ear anomalies[ncbi.nlm.nih.gov]

    Missing: Thick Wiry Hair
  • Rapp-Hodgkin Syndrome

    (hypotrichosis) Can be brittle, coarse or wiry with pili torti Patchy alopecia (lack of hair) Eyebrows, eyelashes and body hair may also be sparse or absent.[nfed.org] Nails Small Hyperconvex Thick Hyper-ridging Missing Eyes Eyelid fusion (ankyloblepharon) Corneal erosions Blepharitis (chronic inflammation of the eyelid) Conjunctivitis(pink[nfed.org] […] in AEC may mimic epidermolysis bullosa (EB) or a collodian baby (skin that resembles a yellow, tight and shiny film) or dried collodion (sausage skin) Hair Sparse, fine hair[nfed.org]

    Missing: Micrognathism
  • Polyarticular Juvenile Idiopathic Arthritis

    Polyarticular juvenile idiopathic arthritis is a multi-etiological condition characterized by arthritis, affecting more than four joints within six months after the condition’s first appearance. It forms a part of the group of conditions named juvenile idiopathic arthritis open link but patients with the polyarticular[…][symptoma.com]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Mandibulofacial Dysostosis

    In some patients, mandibular growth after birth is good, in contrast to those who remain significantly micrognathic.[emedicine.com]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Cleidocranial Dysplasia

    […] and hypoplasia of the proximal phalanx of the big toe, pelvic dysplasia, bilateral hip dislocation, a constant facial dysmorphism with sparse hair, peculiar ears, severe micrognathism[jamanetwork.com] The mandible is prognathic due to hypoplasia of maxilla (micrognathism) and other facial bones.[en.wikipedia.org]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Turner Syndrome

    Abstract Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for[…][doi.org]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Hallermann Syndrome

    European Respiratory Journal 1999 14: 974-977; DOI: Abstract A 26 yr old puerperal female with Hallermann-Streiff syndrome developed serious obstructive sleep apnoea syndrome during pregnancy. She underwent an elective Caesarean section delivery, but ending the pregnancy did not improve her clinical symptoms. By[…][doi.org]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Congenital Muscular Dystrophy

    OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We[…][ncbi.nlm.nih.gov]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Micrognathism

    Baetz- Greenwalt syndrome 0 *Cleft Palate *Heart Defects, Congenital *Microcephaly *Micrognathism Ear, External.[reference.md] Mandibular Micrognathism Mandibular Micrognathisms Micrognathism, Mandibular Micrognathisms, Mandibular Micrognathia Micrognathias Congenital Micrognathism Congenital Micrognathisms[ncbi.nlm.nih.gov] Genito palato cardiac syndrome 0 *Cleft Palate *Gonadal Dysgenesis, 46,XY *Heart Defects, Congenital *Micrognathism.[reference.md]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Craniofrontonasal Dysplasia

    wiry hair, and occasionally cleft lip and/or palate.[genedx.com] wiry hair with orbital asymmetry and strabismus. 5 The extracranial features include multiple skeletal malformations, such as sloping shoulders, dysplastic clavicles, thoracic[ncbi.nlm.nih.gov] , wiry, and curly hair at 2-3 months Defects in formation of toes and fingers, broad fingers and toes, curved last finger Increased webbing in between the fingers and toes[dovemed.com]

    Missing: Atretic Ear Canals Micrognathism

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