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61 Possible Causes for Hypertrichosis of Eyebrows, Muscle Weakness, Short Stature in Children

  • Alpha-Mannosidosis

    Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing[egl-eurofins.com] For children with Type I, symptoms appear after age 10 and progress slowly; affected children have muscle weakness but not skeletal abnormalities, and they may live well into[secure.ssa.gov] Weakness Hearing loss Cataracts Immune deficiency Mental health issues (e.g. depression, anxiety) Prognosis There are three subtypes of Alpha-Mannosidosis.[evolvegene.com]

  • Schwartz-Jampel Syndrome

    554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case 91 An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected[books.google.com] stature and skeletal dysplasia.[ncbi.nlm.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net]

  • Fucosidosis

    […] hereditary disease due to deficient enzymatic activity of fucosidase and resulting in accumulation of fucose in all tissues; marked by progressive cerebral degeneration, muscle[medical-dictionary.thefreedictionary.com] […] mass Underdeveloped muscles 0003199 Muscular hypotonia Low or weak muscle tone 0001252 Seizures Seizure 0001250 Spastic tetraplegia 0002510 Vascular skin abnormality 0011276[rarediseases.info.nih.gov] The primary symptoms of Fucosidosis – Type 1 include developmental delays, mental retardation, overall weakness, poor muscle tone, thick skin, rough facial features and excessive[disability-benefits-help.org]

  • SHORT Syndrome

    GBS can be dangerous if the muscle weakness affects the chest muscles responsible for breathing.[brainfoundation.org.au] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com]

  • Wiedemann-Steiner Syndrome

    Joint hypermobility Large fontanelles Respiratory insufficiency due to muscle weakness Delayed myelination Proximal muscle weakness Stereotypy Opisthotonus Cerebellar vermis[mendelian.co] Investigation of pituitary function should be undertaken in children with WSS and short stature.[ncbi.nlm.nih.gov] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Coffin-Lowry Syndrome

    Coffin Robert Brian Lowry A familial syndrome characterised by dwarfism and severe mental retardation, muscle weakness, unusual prominence of the breastbone (pectus carinatum[whonamedit.com] Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short[ncbi.nlm.nih.gov] This condition is characterized by intellectual disability, short stature, musculoskeletal abnormalities, and sudden onset of recurrent muscle weakness.[epainassist.com]

  • Thanatophoric Dysplasia

    It has been postulated that many clinical features in CFZS may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al.[mendelian.co] Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov] Thanatophoric dysplasia is also known by the names: Dwarf, thanatophoric Thanatophoric dwarfism Thanatophoric short stature Symptoms of Thanatophoric Dysplasia Unfortunately[disabled-world.com]

  • Rubinstein-Taybi Syndrome

    muscle tone 0001252 Narrow mouth Small mouth 0000160 Narrow palate Narrow roof of mouth 0000189 Obstructive sleep apnea 0002870 Papillary cystadenoma of the epididymis 0009715[rarediseases.info.nih.gov] Children with RTS usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size.[cafamily.org.uk] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Char Syndrome

    Trouble swallowing Facial weakness Vision changes Your child may have muscle weakness for several weeks.[stanfordchildrens.org] Short stature Children with Noonan syndrome are usually a normal length at birth.[nhs.uk] At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.[ghr.nlm.nih.gov]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    […] atrophy and Decreased body weight, related diseases and genetic alterations Muscle weakness and Stomach cancer, related diseases and genetic alterations Hypertelorism and[mendelian.co] Growth delays usually result in short stature (dwarfism).[rarediseases.org] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.net]

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