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963 Possible Causes for Agenesis or Hypoplasia of the Corpus Callosum, Atretic Ear Canals, Thick Wiry Hair

  • Rapp-Hodgkin Syndrome

    […] and Nail Defects Hypertrichosis, Congenital Generalized, With or Without Gingival Hyperplasia Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Agenesis of the Corpus[nfed.org] (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] […] of corpus callosum Agenesis of permanent teeth Hypothyroidism Depressed nasal ridge Intrauterine growth retardation Taurodontia Abnormal hair quantity Aplasia/Hypoplasia[mendelian.co]

  • Craniofrontonasal Dysplasia

    callosum hypoplasia or agenesis, and developmental delay but without severe mental deficiency.[karger.com] wiry hair, and occasionally cleft lip and/or palate.[genedx.com] […] of corpus callosum 0001274 Axillary pterygium 0001060 Bifid nasal tip Cleft nasal tip 0000456 Breast hypoplasia Underdeveloped breasts 0003187 Broad hallux Broad big toe[rarediseases.info.nih.gov]

    Missing: Atretic Ear Canals
  • Chudley-Rozdilsky Syndrome

    callosum agenesis-intellectual disability syndrome Curatolo-Cilio-Pessagno syndrome - See White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome[elbiruniblogspotcom.blogspot.com] Facial anomalies may include microcephaly, thickening of the skull, hemifacial microsomia, enlarged frontal sinuses, microtia, atretic ear canal, hypertelorism, blepharoptosis[accessanesthesiology.mhmedical.com] callosum agenesis double urinary collecting / Cortical blindness-intellectual disability-polydactyly syndrome / Cortical defects wormian bones and dentinogenesis imperfecta[gennome.com]

    Missing: Thick Wiry Hair
  • Acrocallosal Syndrome

    hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities.[ncbi.nlm.nih.gov] Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial[ncbi.nlm.nih.gov] Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes.[ncbi.nlm.nih.gov]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Goldenhar Syndrome

    […] of corpus callosum, hypoplasia of septum pellucidum). [ 7 ] There may also be facial nerve palsy.[patient.info] , 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] 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]

    Missing: Thick Wiry Hair
  • Hidrotic Ectodermal Dysplasia

    Hypothyroidism Agenesis of corpus callosum Intellectual disability, mild Pectoralis major hypoplasia Hypoplasia of deltoid muscle Limited interphalangeal movement Limited[mendelian.co] What to be alert for in the history --Abnormally thick and wiry hair in infancy --Progressive alopecia with age --Progressively dystrophic nails --Palmoplantar changes --Painful[dermatologyadvisor.com] […] and Nail Defects Hypertrichosis, Congenital Generalized, With or Without Gingival Hyperplasia Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Agenesis of the Corpus[nfed.org]

    Missing: Atretic Ear Canals
  • Thickened Earlobes-Conductive Deafness Syndrome

    callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome Intellectual disability[checkrare.com] Microtia-anotia Definition: Deformed or absent pinna with an atretic ear canal. Most forms are associated with conductive hearing loss.[sonoworld.com] callosum agenesis - spastic quadriparesis Vocal cord dysfunction familial Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Punctate palmoplantar[checkrare.com]

    Missing: Thick Wiry Hair
  • Warburg Micro Syndrome 3

    , or hypoplasia of the corpus callosum and hypogenitalism.[unboundmedicine.com] 2011-0459 Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis[semanticscholar.org] Abstract Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis[unboundmedicine.com]

    Missing: Atretic Ear Canals Thick Wiry Hair
  • Warburg Sjo Fledelius Syndrome

    […] recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum[wikidata.org] […] stenotic ear canals 39 Inguinal hernia 4 Congenital heart disease 36 Large protruding forehead 4 Increased whorl patterns 36 Clinodactyly 4 Dysplastic labia minora 35 Dysplastic[labmed.hallym.ac.kr] […] or hypoplasia of the corpus callosum and hypogenitalism.[informatics.jax.org]

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

    […] of corpus callosum Retinal dysplasia Hypoplasia of the pons Cerebellar cyst Aplasia/Hypoplasia of the cerebellum Acrania Feeding difficulties Cataract Multicystic kidney[mendelian.co] 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