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126 Possible Causes for Dysmorphic Face, Sloping Shoulders

  • Cleidocranial Dysplasia

    shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[ncbi.nlm.nih.gov] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[ncbi.nlm.nih.gov] 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]

  • 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] 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] shoulders, and significant learning disabilities despite normal intelligence.[hw-f5-jim.highwire.org]

  • Williams-Beuren Syndrome

    They can have a short stature, sloping shoulders, long neck and limited movement in their joints. What medical issues are associated with Williams Syndrome?[aapos.org] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov] shoulders, a long neck, and are short of stature.[disabled-world.com]

  • Skeletal Dysplasia

    As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the[ghr.nlm.nih.gov] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

  • Craniosynostosis

    shoulders, asymmetric nipples, bifid digits and agenesis of the corpus callosum. 30 The identification of causative mutations in EFNB1, which confer loss of function and[nature.com] Syndromic craniosynostosis is associated with various dysmorphisms involving the face, skeleton, nervous system, and other anomalies and is usually accompanied by developmental[ncbi.nlm.nih.gov] Females have severe hypertelorism, unicoronal or bicoronal synostosis, bifid nasal tip, characteristic longitudinal nail splits ( Figure 1m and o ) and, at lower frequency, sloping[nature.com]

  • 3M Syndrome Type 1

    Other skeletal abnormalities that often occur in this disorder include a short, broad neck and chest; prominent shoulder blades; and shoulders that slope less than usual ([ghr.nlm.nih.gov] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[ncbi.nlm.nih.gov] Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface[cags.org.ae]

  • 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] Head radiographs showed macrocephaly and brachycephaly with dysmorphic face. Rest infantogram was normal.[ruralneuropractice.com] 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] (a narrow face and a small sized chin, retrognathia, blepharoptosis).[medcraveonline.com] 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] Head radiographs showed macrocephaly and brachycephaly with dysmorphic face. Rest infantogram was normal.[ncbi.nlm.nih.gov] shoulders, umbilical hernia 4021 r,l a ACC Mild (Delta phalanx digit one right hand) lf(2,3) Left eye only r,l Mild pectus excavatum, duplication of distal phalanx r thumb[doi.org]

  • CHARGE Syndrome

    Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal[ncbi.nlm.nih.gov] Dysmorphic facial features include square face, prominent forehead, prominent nasal bridge and asymmetry from the facial palsy.[orpha.net] Feature Includes Frequency Chronic Ear Problems Lots of infections, fluid in the ears, PE tubes until teens 85% Sloping Shoulders Underdeveloped shoulder muscles, small or[chargesyndrome.org]

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