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555 Possible Causes for Round Face, Short Neck

  • Pseudohypoparathyroidism Type 1A

    Her physical examination noted a stocky physique, broad chest, short neck and short digits.[ncbi.nlm.nih.gov] In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[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

    Keywords: Albright hereditary osteodystrophy; GNAS1; MC4R; normal stature; pseudopseudohypoparathyroidism Figures Normal stature, obesity, round face, short neck (A), short[e-enm.org] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    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] It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com]

  • Mucopolysaccharidosis 2

    Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal[symptoma.com] Thick skin, short neck, widely spaced teeth, and hearing loss of varying degree are also commonly present.[rarediseases.org]

  • Kniest Dysplasia

    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] Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).[monarchinitiative.org] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]

  • Mucopolysaccharidosis 1

    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] On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org] Affected individuals may also have a disproportionately short neck. The head, hands and feet are average-sized.[rarediseases.org] Clinical description Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial[orpha.net]

  • Trisomy 12p

    Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] neck, rounded facies with prominent cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism.[epilepsydiagnosis.org] […] is a chromosomal abnormality that results in developmental delay, intellectual impairment and a number of dysmorphic features including turricephaly, a flattened occiput, short[epilepsydiagnosis.org]

  • Aarskog Syndrome

    Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[ncbi.nlm.nih.gov] Keywords Internal Medicine Metabolic Disease Short Stature Short Neck Small Hand These keywords were added by machine and not by the authors.[link.springer.com] neck Decreased length of neck 0000470 Single transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have[rarediseases.info.nih.gov]

  • Pseudohypoparathyroidism

    neck Short hand bones, especially the bone below the 4th finger Short height Your health care provider will recommend calcium and vitamin D supplements to maintain a proper[nlm.nih.gov] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com]

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