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1,390 Possible Causes for Short Neck, Short Stature

  • 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]

  • 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]

  • 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]

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov] The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic[ncbi.nlm.nih.gov]

  • 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] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[ggc.org]

  • 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]

  • Noonan Syndrome

    […] signalling pathways involved in short stature.[doi.org] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4A

    Clinical findings Short stature, skeletal dysplasia, dental anomalies, and corneal clouding.[medical-dictionary.thefreedictionary.com] Short neck, cervical spine instability, and generalized platyspondyly may also be noted.[symptoma.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]

  • Mucopolysaccharidosis 1H

    Other causes of general learning disability and short stature.[patient.info] Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin.[symptoma.com] 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]

  • Mucopolysaccharidosis 1

    Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[symptoma.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] Features include short-trunk dwarfism, short neck, joint hypermobility, respiratory disease, cardiac disease, impaired vision with corneal clouding, hearing loss, dental abnormalities[invitae.com]

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