Create issue ticket

20 Possible Causes for Hearing Impairment, Relative Macrocephaly in Childhood

  • Neurofibromatosis Type 2

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] In patients after the age of 30, in whom we observe multiple schwannomas without the concomitant hearing impairment, the diagnosis of schwannomatosis is very likely.[ncbi.nlm.nih.gov] Fifteen patients had progressive hearing impairment, and 7 ears were totally deaf.[ncbi.nlm.nih.gov]

  • Autism

    Brain Overgrowth and Macrocephaly The findings of early postnatal brain “overgrowth” in ASD followed by normalization or relative growth arrest in childhood are intriguing[ncbi.nlm.nih.gov] Your child will undergo a formal audiological assessment where he or she is tested for any hearing impairments, as well as any other hearing issues or sound sensitivities[helpguide.org] Visual impairment; hearing impairment.[patient.info]

  • Spastic Paraplegia

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] Additional neurological abnormalities are hearing impairment, mental retardation and ataxia . What Are The Symptoms Of Hereditary Spastic Paraplegia?[epainassist.com] Additional neurological abnormalities are hearing impairment, mental retardation and ataxia. What Are The Symptoms Of Hereditary Spastic Paraplegia?[epainassist.com]

  • Opitz-Kaveggia Syndrome

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment[genomediagnosticsnijmegen.nl] impairment 0000407 Percent of people who have these symptoms is not available through HPO Abnormal heart morphology Abnormality of the heart Abnormally shaped heart [2] [[rarediseases.info.nih.gov]

  • Neurofibromatosis Type 1

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] Treating hearing problems If you have NF2, your hearing will probably become impaired to such an extent that you'll require treatment.[web.archive.org] Hearing loss, as well as neurological impairment and seizures occur in most patients.[uchospitals.edu]

  • Legius Syndrome

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] The ears are low set and some of these children have impaired hearing. The skin is dry and thicker than normal (hyperkeratosis).[socialstyrelsen.se] No hearing impairment has been identified. Echocardiography showed an atrial septal defect.[healthdocbox.com]

  • Gorlin Syndrome

    […] with NBCCS childhood medulloblastoma macrocephaly (occipital frontal circumference 97th centile) cleft lip/palate vertebral/rib anomalies preaxial or postaxial polydactyly[invitae.com] ., craniofacial abnormalities, ear abnormalities, hearing loss, visual impairment, skeletal malformations, cardiac disease, kidney abnormalities, esophageal atresia, tracheoesophageal[rarediseases.org] First degree relative with NBCCS Minor criteria Childhood medulloblastoma (also called primitive neuro-ectodermal tumor [PNET]) Lympho-mesenteric or pleural cysts Macrocephaly[en.wikibooks.org]

  • Multiple Congenital Anomalies

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] impairment, and cleft palate Mowat-Wilson syndrome Multiple pterygium syndrome Muscle-Eye-Brain disease Myasthenic syndrome N Nance-Horan Syndrome Nijmegen breakage syndrome[genomediagnosticsnijmegen.nl] impairment.[leader.pubs.asha.org]

  • Autosomal Recessive Spastic Paraplegia Type 20

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] impairment, elliptocytosis, and nephrocalcinosis 300990 300195 X-linked recessive AMN 14q32.32 Megaloblastic anemia-1, Norwegian type 261100 605799 Autosomal recessive AMPD1[mnglabs.com] , epilepsy, pyramidal signs, abnormal movement, visual alterations, hearing loss, lower motor neuron disease, peripheral neuropathy, and myopathy.[elsevier.es]

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] DOWN SYNDROME Is also known as trisomy 21;trisomy 21 Related symptoms: Intellectual disability Global developmental delay Short stature Generalized hypotonia Hearing impairment[mendelian.co] […] loss or visual impairment Skin abnormalities (ichthyosis, etc.)[igd.biken.osaka-u.ac.jp]

Further symptoms

Similar symptoms