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18 Possible Causes for Genital Labial Hypoplasia, High Inter- and Intrafamiliar Variability of Phenotype, Sensorineural Hearing Loss Associated with ELSTs

  • CHARGE Syndrome

    CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth[…][en.wikipedia.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Genital Labial Hypoplasia
  • Jacobsen Syndrome

    From Wikidata Jump to navigation Jump to search Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11 Partial 11Q Monosomy Syndrome JBS JACOBSEN SYNDROME Distal monosomy 11q Chromosome 11Q Deletion[…][wikidata.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Oculo-Osteo-Cutaneous Syndrome

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short fingers short metacarpals (3rd-5th) Skin Nails Hair Skin: albinoidism[…][malacards.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Partial Monosomy 18q

    Nuijten, Inge * ; Admiraal, Ronald † ; Van Buggenhout, Griet ‡ ; Cremers, Cor † ; Frijns, Jean-Pierre ‡ ; Smeets, Dominique * ; van Ravenswaaij-Arts, Conny * PEDIATRIC OTOLOGY Abstract Author Information Authors To study the occurrence of congenital aural atresia in patients with a deletion of the long arm of[…][journals.lww.com]

    Missing: Genital Labial Hypoplasia Sensorineural Hearing Loss Associated with ELSTs
  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Most patients have varying degrees of genital hypoplasia with hypospadias, micropenis and occasional ambiguous genitalia in males and labial hypoplasia, hymenal atresia and[atlasgeneticsoncology.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Cloacal Exstrophy

    Cloacal exstrophy is the most severe form of the exstrophy-epispadias complex, occurring in approximately 1 of every 200,000 to 400,000 live births. Variant such as covered cloacal exstrophy presentations are only one-tenth as common. Although exstrophy-epispadias complexes include genital anomalies, intravesical[…][ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Urethral Cyst

    Genital Anomalies Associated with Specific Syndromes Certain genital anomalies such as hypoplasia of the labia majora may be seen in specific genetic syndromes.[urologyweb.com] Inter-labial Masses An easy way to determine the origin of an inter-labial mass is to examine the area under appropriate lighting and evaluate the mass with Qtips while the[urologyweb.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Vaginal Adhesions

    Genital Anomalies Associated with Specific Syndromes Certain genital anomalies such as hypoplasia of the labia majora may be seen in specific genetic syndromes.[urologyweb.com] Inter-labial Masses An easy way to determine the origin of an inter-labial mass is to examine the area under appropriate lighting and evaluate the mass with Qtips while the[urologyweb.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Camptodactyly Syndrome Guadalajara Type 1

    (gluteal hypoplasia), genital (labial hypoplasia) and skeletal findings (brachydactyly, simian creases, osteopenia and pelvic hypoplasia) were seen as has been described[ped-rheum.biomedcentral.com] Facial dysmorphism (midfacial hypoplasia, hypertelorism, long neck, small, posteriorly rotated ears) and subnormal intelligence were compatible with Type I variant but muscle[ped-rheum.biomedcentral.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs