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17 Possible Causes for Joint Range of Motion Increased, Sparse Eyelashes

  • Hallermann-Streiff Syndrome

    His ophthalmic features included sparse eyelashes and eyebrows, microphthalmia, nystagmus, lower lid entropion in the right eye, and upper lid entropion with blepharoptosis[ncbi.nlm.nih.gov] […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Telecanthus Corners of eye widely separated[rarediseases.info.nih.gov] […] and thin eyebrow Sparse eyelashes Telecanthus Underdeveloped nasal alae Visual impairment Occasionally present symptoms in 5-29% of the cases: Abdominal situs inversus Abnormality[dovemed.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] size of cheeks Large cheeks [ more ] 0000293 Hypopigmented skin patches Patchy loss of skin color 0001053 Joint hyperflexibility Joints move beyond expected range of motion[rarediseases.info.nih.gov] […] and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth ; Tetralogy of Fallot Associated Genes RNU4ATAC (Withdrawn symbols: RNU4ATAC1, U4atac ) Mouse Orthologs[mousephenotype.org] The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists[ajol.info]

  • Lenz-Majewski Syndrome

    […] hyperflexibility Joints move beyond expected range of motion 0005692 Large fontanelles Wide fontanelles 0000239 Macrocephaly Increased size of skull Large head Large head[rarediseases.info.nih.gov] […] scalp hair Clumsiness Gynecomastia Long eyelashes Horizontal nystagmus Downslanted palpebral fissures Hypogonadotrophic hypogonadism Retinal atrophy Progressive gait ataxia[mendelian.co] […] eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint[rarediseases.info.nih.gov]

  • Noonan Syndrome

    […] beyond expected range of motion 0005692 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Midface retrusion[rarediseases.info.nih.gov] […] eyebrows and eyelashes are prominent.[jiaomr.in] These features may include sparse eyebrows and eyelashes, and follicular hyperkeratosis (white bumps on the skin).[stjude.org]

  • Oculocerebral Hypopigmentation Syndrome Type Cross

    […] of motion (hyperextension) Increased muscle rigidity and stiff movement Exaggerated reflexes Lack of leg and arm voluntary movements (spastic tetraplegia) Permanently flexed[dovemed.com] […] eyebrows & eyelashes, sparse scalp hair, severe MR, hearing loss, seizures, ptosis, high forehead, hypertelorism, facial defects Papillon-LefÀvre syndrome AR; palmoplantar[dermadvocate.net] joints (joint contractures) usually affecting the legs, arms, hips, and shoulders Infants with the condition may have a high-pitched cry or make a constant sucking sound[dovemed.com]

  • Progeria

    Previously unrecognized findings included prolonged prothrombin times, elevated platelet counts and serum phosphorus levels, measured reductions in joint range of motion,[ncbi.nlm.nih.gov] eyelashes, overcrowding of teeth, mottled pigmentation over the neck and flanks, and subcostal retraction of the chest with pectus excavatum [Figure 1] a, [Figure 1] b, [[idoj.in] […] eyes [ more ] 0000520 Sensorineural hearing impairment 0000407 Short clavicles Short collarbone 0000894 Short stature Decreased body height Small stature [ more ] 0004322 Sparse[rarediseases.info.nih.gov]

  • Mirhosseini-Holmes-Walton Syndrome

    […] of teeth Concave nasal ridge Papilloma Sparse eyelashes Sparse and thin eyebrow Lipodystrophy Melanocytic nevus Abnormality of dental enamel Venous thrombosis Small for gestational[mendelian.co] […] body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age.[mendelian.co] […] bridge Autosomal dominant inheritance Micrognathia Abnormal nasolacrimal system morphology Follicular hyperkeratosis Abnormal eyelid morphology Hypertonia Abnormality of the eyelashes[mendelian.co]

  • CK Syndrome

    300864 CEREBROOCULOFACIOSKELETAL SYNDROME Cataracts, blepharophimosis, microphthalmia, nystagmus, deep-set eyes AR ERCC6 #214150 CEREBROOCULONASAL SYNDROME Anophthalmia, Sparse[eyewiki.aao.org] […] on adduction, optic disc hypoplasia, iris coloboma, retinal coloboma, epicanthal folds, hypertelorism, cataracts, microphthalmia AD SALL4 #607323 DYSKERATOSIS CONGENITA Sparse[eyewiki.aao.org] , sparse eyebrows, hyperopia, upslanting palpebral fissures XLR PQBP1 #309500 RETINITIS PIGMENTOSA Progressive retinal degeneration, night blindness, constricted visual fields[eyewiki.aao.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    […] size of cheeks Large cheeks [ more ] 0000293 Hypopigmented skin patches Patchy loss of skin color 0001053 Joint hyperflexibility Joints move beyond expected range of motion[rarediseases.info.nih.gov] […] and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth ; Tetralogy of Fallot Associated Genes RNU4ATAC (Withdrawn symbols: RNU4ATAC1, U4atac ) Mouse Orthologs[mousephenotype.org] […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp hair, thinning Sparse[rarediseases.info.nih.gov]

  • De Barsy Moens Diercks Syndrome

    Restrictive dermopathy Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes[howlingpixel.com]

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