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661 Possible Causes for Short Neck, Short Stature in Children

  • Schwartz-Jampel Syndrome

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

    The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.com] Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] MPS IIA Common presenting signs and symptoms in children with classic MPS IIA include progressive coarsening of facial features, short stature, joint stiffness, hepatosplenomegaly[emedicine.medscape.com]

  • Mucopolysaccharidosis 1H

    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] Growth delays usually result in short stature (dwarfism).[rarediseases.org] Affected children have a short stature and suffer from hepatosplenomegaly, a condition characterized by an enlarged liver and spleen.[patienthelp.org]

  • Mucopolysaccharidosis

    Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] 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]

  • Mucopolysaccharidosis 7

    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] Only 2 pathogenic variants have been reported for the HYAL1 gene: Missense mutation c.802G A; p.E268K reported in association with short stature phenotype 35 Small deletion[centogene.com] She had dysmorphic facial features, macroglossia, a short neck, a low hair line, a high arched palate, corneal haziness, Mongolian spots over back, exaggerated thoracic kyphosis[neurologyindia.com]

  • Noonan Syndrome 1

    Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism[uniprot.org] Stature Idiopathic Short Stature Idiopathic short stature (ISS) is a term used when your child is very short compared with other children of the same age and there is no[norditropin.com] Signs and Symptoms Short height. Large eyes that are set wide apart. Low set ears. Short neck. Low hairline across the neck. Vision problems: crossed eyes, squinting.[growingup.net]

  • Freeman-Sheldon Syndrome

    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] She has dysmorphic mask like facies which has whistling appearance and other features include deep set eyes, broad nasal bridge, short neck, hypoplasia of the ala nasai, long[elynsgroup.com]

  • Down Syndrome

    Common but not universal features include short stature, round face, almond-shaped and up-slanting eyes. Such features are not medical conditions. 4.[globaldownsyndrome.org] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips , and sloping underchin[britannica.com] Though not all people with Down syndrome have the same features, some of the more common features include: Flattened face Small head Short neck Protruding tongue Upward slanting[mayoclinic.org]

  • Turner Syndrome

    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] Stature Idiopathic Short Stature Idiopathic short stature (ISS) is a term used when your child is very short compared with other children of the same age and there is no[norditropin.com] 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 4A

    Short neck, cervical spine instability, and generalized platyspondyly may also be noted.[symptoma.com] Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, and enlargement of[rarediseases.org]

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