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48 Possible Causes for Hypertrichosis of Eyebrows, Muscle Hypotonia, Short Stature in Children

  • Alpha-Mannosidosis

    (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).[ismrd.org] Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing[egl-eurofins.com] In this report, the most common presenting symptom was hypotonia (75%), and muscle weakness was a presenting symptom in 59% of patients.[emedicine.medscape.com]

  • Wiedemann-Steiner Syndrome

    […] tone ( hypotonia ).[en.wikipedia.org] 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]

  • Rubinstein-Taybi Syndrome

    In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] 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]

  • Coffin-Lowry Syndrome

    Muscle hypotonia and decreased or abolished muscle stretch reflexes are noted, whereas eye movements and sometimes verbal communication are possible. 8 TABLE 2.[pediatrics.aappublications.org] 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] Low or weak muscle tone 0001252 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Open mouth Gaped jawed appearance Gaped[rarediseases.info.nih.gov]

  • Fucosidosis

    […] 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] […] tone (hypotonia) resulting in “floppiness” and growth retardation.[rarediseases.org] […] forehead Pronounced forehead Protruding forehead [ more ] 0011220 30%-79% of people have these symptoms Abnormality of the gallbladder 0005264 Corneal opacity 0007957 Decreased muscle[rarediseases.info.nih.gov]

  • Autosomal Dominant Mental Retardation Type 21

    A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.[mitomap.org] Affected children have a short stature with an average height below the 5th percentile. Bone age is delayed in the first decade of life.[content.sciendo.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • Schwartz-Jampel Syndrome

    All patients had feeding and swallowing difficulties, respiratory insufficiency, abnormal appearance, muscle hypotonia, and postnatal short stature.[ncbi.nlm.nih.gov] 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]

  • SHORT Syndrome

    […] tone (hypotonia) in infancy.[genome.gov] 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]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    hypotonia, craniofacial dysmorphism, mentaldeficiency1.[docslide.com.br] 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]

  • Spondyloepimetaphyseal Dysplasia Type Geneviève

    Other features included muscle hypotonia in infancy, with delays in early motor development such as sitting and walking.[omim.org] Such growth deformities lead to children being shorter than normally would be expected based upon their age and gender (short stature or dwarfism).[rarediseases.org] Generalized hypotonia and Hirsutism. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Hearing impairment Microcephaly Thick eyebrow[mendelian.co]

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