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23 Possible Causes for Long Eyelashes (Trichomegaly), Muscle Hypotonia

Did you mean: Long Eyelashes (Trichomegaly, Muscle Hypotonia

  • Lenz-Majewski Syndrome

    OLIVER-MCFARLANE SYNDROME; OMCS Is also known as trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina, eyelashes, long, with mental retardation[mendelian.co] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] Decreased muscle tone Low muscle tone [ more ] 0001290 Humeroradial synostosis Fusion of upper and lower arm bones 0003041 Hyperextensibility of the finger joints Finger[rarediseases.info.nih.gov]

  • Stuve-Wiedemann Syndrome

    […] with mental retardation, dwarfism, and pigmentary degeneration of retina, eyelashes, long, with mental retardation;long eyelashes-intellectual disability syndrome; oliver-mcfarlane[mendelian.co] Affected infants may also have underdeveloped muscle tone (hypotonia) and/or an elbow that is permanently fixed in a bent or flexed position (elbow contracture).[rarediseases.org] […] syndrome Description Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies[mendelian.co]

  • Congenital Disorder of Glycosylation Type 1Q

    Trichomegaly Plus Syndrome Clinical Characteristics Ocular Features: Eyelashes are described as ‘long’, and the eyebrows are bushy.[disorders.eyes.arizona.edu] Muscle hypotonia developed at the age of 5 months, and severe mental delay, visual impairment, optic atrophy, nystagmus, cerebellar ataxia, and recurrent episodes of reduced[bmcmedgenet.biomedcentral.com] All patients presented with early clinical symptoms, mostly muscle hypotonia and visual problems in the first 6 months of life.[academic.oup.com]

  • Joubert Syndrome Type 3

    Trichomegaly Plus Syndrome Clinical Characteristics Ocular Features: Eyelashes are described as ‘long’, and the eyebrows are bushy.[disorders.eyes.arizona.edu] Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood.[ghr.nlm.nih.gov] Cohen Syndrome Malformations of the head and facial (craniofacial) area, eye (ocular) abnormalities, diminished muscle tone (hypotonia), obesity, abnormally narrow hands and[apraxia-kids.org]

  • BOD Syndrome

    OLIVER-MCFARLANE SYNDROME; OMCS Is also known as trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina, eyelashes, long, with mental retardation[mendelian.co] Grubben de Cock Borghgraef syndrome 0 *Developmental Disabilities *Eczema/congenital *Muscle Hypotonia/congenital *Tooth Abnormalities *Limb Deformities, Congenital.[reference.md] Reduced muscle tone (hypotonia), lax joints, delay in bone maturation, and short stature are commonly found.[encyclopedia.com]

  • Amaurosis-Hypertrichosis Syndrome

    Figure 1 Oculocutaneous albinism with abnormally long eyelashes. Figure 2 Pedigree of the family with trichomegaly.[nature.com] Hypotonia (low muscle tone and strength), dystonia (involuntary, sustained muscle contraction), and ataxia (lack of control over movement) are often seen in people with Leigh[en.wikipedia.org] As the disease progresses, the muscular system is debilitated throughout the body, as the brain cannot control the contraction of muscles.[maria-online.com]

  • Bonnemann-Meinecke-Reich Syndrome

    OLIVER-MCFARLANE SYNDROME; OMCS Is also known as trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina, eyelashes, long, with mental retardation[mendelian.co] […] atrophy Brachydactyly Dysarthria Muscular hypotonia Patchy demyelination of subcortical white matter Ivory epiphyses of the phalanges of the hand Atypical scarring of skin[mendelian.co] […] skin pigmentation Pes planus Congenital cataract Cerebral cortical atrophy Hyporeflexia Hypermetropia Dry skin Hypertonia Cutaneous photosensitivity Polyneuropathy Skeletal muscle[mendelian.co]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    (long eyelashes) can arise from local bimatoprost or systemic erlotinib.[dermnetnz.org] hypotonia, craniofacial dysmorphism, mentaldeficiency1.[docslide.com.br] […] rubbing or scratching ( lichen simplex ) Application of plaster cast (temporary) Repeated application of minoxidil, potent topical steroid, iodine, psoralens ( topical PUVA ) Trichomegaly[dermnetnz.org]

  • Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

    Acronym OMCS Synonyms Congenital trichomegaly, pigmentary retinal degeneration, and short stature Eyelashes long, mental retardation Long eyelashes with mental retardation[uniprot.org] […] weakness Sensory axonal neuropathy Scoliosis Muscle weakness Gait ataxia Hearing impairment Autosomal dominant inheritance Cerebellar atrophy Generalized hypotonia Distal[mendelian.co] […] trich·o·meg·a·ly ( trik'ō-meg'ă-lē ), [MIM*190330] Congenital condition characterized by abnormally long eyelashes; associated with dwarfism.[medical-dictionary.thefreedictionary.com]

  • Hypogonadotropic Hypogonadism - Retinitis pigmentosa Syndrome

    Acronym OMCS Synonyms Congenital trichomegaly, pigmentary retinal degeneration, and short stature Eyelashes long, mental retardation Long eyelashes with mental retardation[uniprot.org] Marinesco-Sjögren syndrome is characterized by cerebellar ataxia with cerebellar atrophy, early-onset cataracts, mild to severe intellectual disability, hypotonia, muscle[ncbi.nlm.nih.gov] Trichomegaly Plus Syndrome Clinical Characteristics Ocular Features: Eyelashes are described as ‘long’, and the eyebrows are bushy.[disorders.eyes.arizona.edu]

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