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327 Possible Causes for Absent or Hypoplastic Thumbs, Atretic Ear Canals, Thick Wiry Hair

  • Nager Syndrome

    Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones.[ncbi.nlm.nih.gov] Seven patients evaluated in this study had histories of early respiratory and feeding problems, micrognathia and absent velum, atretic ear canals and conductive hearing loss[ncbi.nlm.nih.gov] […] or absent thumbs.[gynecology-obstetrics.imedpub.com]

    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: Absent or Hypoplastic Thumbs
  • 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: Absent or Hypoplastic Thumbs Atretic Ear Canals
  • Fanconi Anemia

    […] bone marrow, renal hypoplasia, absent or hypoplastic thumbs or radii, short stature and other anomalies; some patients have milder phenotype Thrombocytopenia: often the first[pathologyoutlines.com] Ears – Deaf (typically conductive), dysplastic, atretic, narrow ear canal, abnormal middle ear.[cancertherapyadvisor.com] Ears - Deaf (typically conductive), dysplastic, atretic, narrow ear canal, abnormal middle ear.[cancertherapyadvisor.com]

    Missing: Thick Wiry Hair
  • Diamond-Blackfan Anemia

    […] kidney upper limb: absent thumb , hypoplastic thumbs, triphalangeal thumb Promoted articles (advertising)[radiopaedia.org] Symptoms via clinical synopsis from OMIM: 58 Head And Neck Ears: microtia small or atretic external auditory canals mixed hearing loss (patient a) posteriorly rotated ears[malacards.org] […] kidney upper limb: absent thumb, hypoplastic thumbs, triphalangeal thumb Promoted articles (advertising)[radiopaedia.org]

    Missing: Thick Wiry Hair
  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[orpha.net] In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty.[vivavoceoralmedicineradiology.com] The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed.[vivavoceoralmedicineradiology.com]

    Missing: Atretic Ear Canals
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    , hypoplastic, or triphalangeal thumbs e) Mutations of TBX5 gene on 12q24.1 2.[circ.ahajournals.org] […] anatomy Click here to view Discussion Microtia-anotia means deformed or absent pinna with an atretic ear canal.[indianjotol.org] ) Variable expression c) Also associated with VSD, variable other defects d) Noncardiac phenotype features (1) No sex predilection (2) Variable preaxial limb defects (3) Absent[circ.ahajournals.org]

    Missing: Thick Wiry Hair
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Aynaci F M - - 2001 We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias[biomedsearch.com] The external ear canals can be atretic, the nares are often anteverted, and the mouth may be small.[disorders.eyes.arizona.edu] ]; Conductive hearing loss; Atretic external auditory canals; [Eyes]; Optic atrophy; Shallow orbits; Proptosis; Hypertelorism; Strabismus; Exposure conjunctivitis/keratitis[findzebra.com]

    Missing: Thick Wiry Hair
  • Tricho-Retino-Dento-Digital Syndrome

    […] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic[mindmappedia.com] Other external ear malformations (40-60%) may include preauricular tags, lop or bat ears, and microtia. The external auditory canals may be atretic.[emedicine.medscape.com] […] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental[wikidoc.org]

    Missing: Thick Wiry Hair
  • Baller-Gerold Syndrome

    In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental[ncbi.nlm.nih.gov] Thumbs, absent or hypoplastic (100%). Gastrointestinal. Imperforate anus (40%). Genitourinary (35%). Ectopic, hypoplastic, dysplastic or absent kidney. Ramos-Fuentes FJ.[fetalultrasound.com] There are overlapping features in TBS and Baller-Gerold syndrome, including thumb anomalies (usually absent or hypoplastic in Baller-Gerold syndrome), imperforate anus, and[jmg.bmj.com]

    Missing: Atretic Ear Canals Thick Wiry Hair