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178 Possible Causes for Desbuquois Dysplasia, Muscle Hypotonia, Thick Lips

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[] Common neurological symptoms include diminished muscle tone (hypotonia), seizures, deficits in attaining developmental milestones (developmental disability), varying degrees[]

  • Lenz-Majewski Syndrome

    dysplasia 2 Sequencing of all coding exons of the gene - - 2.9 ZC4H2 Wieacker-Wolf syndrome Sequencing of all coding exons of the gene - - 0.7 ZEB2 Mowat Wilson Syndrome[] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[] lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[] Low or weak muscle tone 0001252 Scoliosis Abnormal curving of the spine 0002650 Thick vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips[] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens[]

  • Wiedemann-Steiner Syndrome

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[] […] tone ( hypotonia ).[] lip, stubby hands and feet, hirsutism, and severe psychomotor retardation.[]

  • Goldberg-Shprintzen Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[] hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine[] […] earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral[]

  • Mowat-Wilson Syndrome

    My symptoms seem to be ge... malias Malias, Desbuquois dysplasia, Denmark, March 27, 2019 We have a little son diagnosed with desbuquois dysplasia.[] Low or weak muscle tone 0001252 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Posteriorly rotated ears Ears rotated toward[] […] vertical central groove from the nose to the upper lip) small open mouth with a highly arched palate prominent chin.[]

  • Neuronal Ceroid Lipofuscinosis

    dysplasia Desbuquois syndrome Desmin-related myofibrillar myopathy Desmin-related myopathy with Mallory body-like inclusions Desminopathy Desmoid tumor Desmoid type fibromatosis[] Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk.[] , gingival hypertrophy, macroglossia, and thickening of the lips and nasal alae.[]

  • Singleton Merten Syndrome

    Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[] Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone ( hypotonia ); progressive wasting of the muscles ( muscle atrophy[] […] lower lip vermilion Lethargy Abnormality of the eye Weight loss Vomiting Elfin facies Arthritis Tapered finger Areflexia Short palm Abnormality of the cerebral white matter[]

  • Mulibrey Nanism Syndrome

    Shields type II; 125490; DSPP Dentinogenesis imperfecta, Shields type III; 125500; DSPP Denys-Drash syndrome; 194080; WT1 Dermatopathia pigmentosa reticularis; 125595; KRT14 Desbuquois[] Muscle hypotonia is frequently seen and newborns often have characteristic abnormalities of the head and face including a triangularly shaped face.[] At birth he presented with a broad, fleshy nose with anteverted nostrils, thick and patulous lips, a square chin, curvilinear shaped eyebrows without synophrys, short thorax[]

  • Hypertrichotic Osteochondrodysplasia

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[] Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking.[] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[]

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