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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.[] Her physical examination noted a stocky physique, broad chest, short neck and short digits.[] Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present.[]

  • Schwartz-Jampel Syndrome

    stature and skeletal dysplasia.[] The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[]

  • Mucopolysaccharidosis 2

    Early bone involvement leads to decreased growth velocity and short stature in nearly all patients.[] Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[] Short stature is usually not noted until after age 3 years.[]

  • Mucopolysaccharidosis

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

  • Pseudopseudohypoparathyroidism

    stature.[] Keywords: Albright hereditary osteodystrophy; GNAS1; MC4R; normal stature; pseudopseudohypoparathyroidism Figures Normal stature, obesity, round face, short neck (A), short[] stature, short digits, and heterotopic calcifications.[]

  • 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[] Affiliated tissues include kidney and heart , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation[] Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature .[]

  • Mucopolysaccharidosis 7

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

  • Mucopolysaccharidosis 1H

    Other causes of general learning disability and short stature .[] Head and neck findings included short neck with limited movement, macrocephaly, coarse facial features, depressed nasal bridge [Figure 1] with copious oral secretions and[] 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[]

  • Freeman-Sheldon Syndrome

    stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot Freeman, Ernest A., English orthopedic surgeon, 1900-1975.[] Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance.[] 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).[]

  • 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[] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[] 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[]

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