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1,654 Possible Causes for Short Neck, Short Stature

  • Pseudohypoparathyroidism Type 1A

    This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications.[ncbi.nlm.nih.gov] Her physical examination noted a stocky physique, broad chest, short neck and short digits.[ncbi.nlm.nih.gov] Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present.[disorders.eyes.arizona.edu]

  • Schwartz-Jampel Syndrome

    stature and skeletal dysplasia.[ncbi.nlm.nih.gov] The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com] 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]

  • Mucopolysaccharidosis 2

    Early bone involvement leads to decreased growth velocity and short stature in nearly all patients.[ncbi.nlm.nih.gov] Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] Short stature is usually not noted until after age 3 years.[emedicine.medscape.com]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[omicsonline.org]

  • Pseudopseudohypoparathyroidism

    stature.[ncbi.nlm.nih.gov] Keywords: Albright hereditary osteodystrophy; GNAS1; MC4R; normal stature; pseudopseudohypoparathyroidism Figures Normal stature, obesity, round face, short neck (A), short[e-enm.org] stature, short digits, and heterotopic calcifications.[ncbi.nlm.nih.gov]

  • Verheij Syndrome

    Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender[ncbi.nlm.nih.gov] Affiliated tissues include kidney and heart , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation[malacards.org] Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature .[rug.nl]

  • Mucopolysaccharidosis 7

    People with MPS VII may experience joint stiffness, short stature, an enlarged spleen and liver, and heart and lung complications.[ultrarareadvocacy.com] Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening[omicsonline.org] MPS 7 also causes a characteristic facial appearance and can lead to a progressive skeletal dysplasia.[ultragenyx.com]

  • Mucopolysaccharidosis 1H

    Other causes of general learning disability and short stature .[patient.info] Head and neck findings included short neck with limited movement, macrocephaly, coarse facial features, depressed nasal bridge [Figure 1] with copious oral secretions and[joacp.org] The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and[rarediseases.about.com]

  • Freeman-Sheldon Syndrome

    stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot Freeman, Ernest A., English orthopedic surgeon, 1900-1975.[medical-dictionary.thefreedictionary.com] Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance.[fsrgroup.org] She also has short neck (Figure 1). There is contracture of both knees. Flexion contractures of both hands and toes of the right foot are found (Figure 2).[elynsgroup.com]

  • Kniest Dysplasia

    Kniest dysplasia is a genetic condition with developmental features that may include short limbs and a short trunk causing short stature (dwarfism), deformities in the joints[nemours.org] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov] Other symptoms include a curved spine, instability of the cervical spine at C1 and C2 (vertebras in the neck), short neck, clubfoot, cleft palate, and poorly formed femur[ksginfo.org]

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