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48 Possible Causes for Hearing Impairment, Hypertrichosis of Eyebrows, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] Other features may include hearing impairment, awkward gait, and heart and kidney involvement. Onset in postnatal period.[whonamedit.com]

  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] Many children have vision problems and hearing impairments as a result of infections, attributable to an increased sensitivity to infection.[mun-h-center.se] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Coffin-Siris Syndrome
  • Opitz-Kaveggia Syndrome

    Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment[genomediagnosticsnijmegen.nl] […] fullness, a wide mouth with full lips, and coarse facial features as well as fifth fingernail hypoplasia, absence of terminal phalanges, hypertrichosis, developmental delay[karger.com]

  • Rapp-Hodgkin Syndrome

    transverse palmar creases Wide intermamillary distance Highly arched eyebrow Synophrys Neurological speech impairment Macrotia Abnormality of dental morphology Midface retrusion[mendelian.co] Affiliated tissues include skin and tongue, and related phenotypes are ptosis and hearing impairment Disease Ontology : 12 An autosomal dominant disease characterized by abnormal[malacards.org] impairment , high forehead, cone-shaped incisors and enamel hypoplasia (thin or absent tooth enamel), microdontia (decreased width of tooth), hypodontia (failure of development[xpertdox.com]

  • Char Syndrome

    The syndrome may also include various dermatoglyphics , including transverse flexion creases, distal axial triradius, increased whorls and arches on digits and a single palmar[en.wikipedia.org] ., pulmonary stenosis, VSD, ASD, coarctation of the aorta ) Hearing impairment Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia ) Partial joining of[en.wikipedia.org] At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.[ghr.nlm.nih.gov]

  • Bangstad Syndrome

    transverse palmar crease Small for gestational age Hypogonadism Osteoporosis Clinodactyly of the 5th finger Cerebellar agenesis Delayed skeletal maturation Abnormality of[mendelian.co] […] and Dentate Gyrus Atrophy Congenital Cataracts, Hearing Loss, and Neurodegeneration congenital central hypoventilation syndrome CONGENITAL CONTRACTURES OF THE LIMBS AND FACE[rgd.mcw.edu] Delayed skeletal maturation Abnormality of metabolism/homeostasis Myopia Sensorineural hearing impairment Hearing impairment Aplasia/Hypoplasia of the pancreas Type 1 fibers[mendelian.co]

  • Wiedemann-Steiner Syndrome

    transverse palmar crease Delayed eruption of teeth Spastic paraplegia EEG abnormality Omphalocele Cerebral cortical atrophy Upslanted palpebral fissure Polyhydramnios Abnormality[mendelian.co] impairment Hyporeflexia Joint laxity Open mouth Myoclonus Bulbous nose Plagiocephaly Myopathy Muscle weakness Ptosis Tented upper lip vermilion Frequent falls Smooth philtrum[mendelian.co] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited[ncbi.nlm.nih.gov] Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment[genomediagnosticsnijmegen.nl] […] some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Global developmental delay Abnormal facial shape Delayed speech and language development Thick eyebrow[mendelian.co]

  • Autosomal Dominant Mental Retardation Type 21

    transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] Complete Probemix List New and Improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing[mlpa.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

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