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143 Possible Causes for Skin Dysplasia, Sloping Shoulders

  • Trisomy 20

    Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant[ncbi.nlm.nih.gov] […] macrostomia and macroglossia, minor anomalies of the ears, pigmentary dysplasia of the skin, dorsal kyphoscoliosis, and other skeletal defects. tri·so·my 20 syn·drome ( trīsō-mē[medical-dictionary.thefreedictionary.com] shoulders, and significant learning disabilities despite normal intelligence. [2] Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops[rarediseases.info.nih.gov]

  • Craniofrontonasal Dysplasia

    shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] A gap with extra folds of skin covering it may appear on the front of the head.[ccakids.org] Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders[familydiagnosis.com]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] skin fragility syndrome PLEC Epidermolysis bullosa, Muscular dystrophy, limb-girdle TGM5 Peeling skin syndrome ABCA12 Ichthyosis, harlequin, Ichthyosis, lamellar ALG8 Congenital[genda.com.ar] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

  • Frontonasal Dysplasia

    shoulder, widely and asymmetrically placed nipple Click here to view Figure 1b: Shoulders were rounded and sloping and could be proximated anteriorly close to the midline[mjdrdypu.org] Our patient was referred at 2 months of age with a complex nasal skin and tip deformity.[ncbi.nlm.nih.gov] A gap with extra folds of skin covering it may appear on the front of the head.[ccakids.org]

  • Hamamy Syndrome

    shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow[rarediseases.info.nih.gov] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears hearing loss, sensorineural ear anomalies preauricular skin tags (in some patients) Skeletal[malacards.org] Symptoms via clinical synopsis from OMIM: 58 Head And Neck Ears: low-set ears hearing loss, sensorineural ear anomalies preauricular skin tags (in some patients) Skeletal[malacards.org]

  • Coxa Valga

    Frontometaphyseal dysplasia (FMD). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD).[ncbi.nlm.nih.gov] Skeletal defects include long neck, narrow thorax, down-sloping shoulders, and prominent elbow joints (Wiedemann et al. 1993).[rrnursingschool.biz] TODPD is a female limited condition, characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata.[ncbi.nlm.nih.gov]

  • Ruijs Aalfs Syndrome

    Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] Ectodermal Dysplasia-Skin Fragility Syndrome ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME Ectrodactyly-Cleft Palate Syndrome Edict Syndrome Edinburgh Malformation Syndrome[rgd.mcw.edu] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.[medcraveonline.com] skin fragility syndrome Schimke immunoosseous dysplasia Odonto onycho dysplasia with alopecia FG syndrome 3 Limb-girdle muscular dystrophy type 2E Spinocerebellar ataxia[checkrare.com] He has a normal occipitofrontal head circumference (OFC) of 54 cm, normal facial appearance, sloping shoulders, diffuse obesity, gyne- comastia, normal hands and feet, long[docslide.com.br]

  • Arthrogryposis Multiplex Congenita

    In the classic manifestations of AMC, shoulders are sloped, adducted, and internally rotated, the elbows are extended, and the wrists and digits are flexed.[merckmanuals.com] 0000958 Ectodermal dysplasia 0000968 Entropion Eyelid turned in 0000621 Hyperkeratosis 0000962 Hypohidrosis Decreased ability to sweat Decreased sweating Sweating, decreased[rarediseases.info.nih.gov] .: Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasia: Three new cases and review of the literature.[link.springer.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    shoulders Micrognathia Convex nasal ridge Abnormal facial shape Prominent forehead Onycholysis Cataract Infertility Acrania Reduced number of teeth Conductive hearing impairment[mendelian.co] skin fragility syndrome Schimke immunoosseous dysplasia Odonto onycho dysplasia with alopecia FG syndrome 3 Limb-girdle muscular dystrophy type 2E Spinocerebellar ataxia[checkrare.com] Skin Fragility Syndrome 2 Ectodermal Dysplasia, 'Pure' Hair-Nail Type 2 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 1 Ectodermal Dysplasia[preventiongenetics.com]

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