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637 Possible Causes for Hypertelorism, Rarely Malignant, Short Neck

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] 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] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[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] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[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]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] 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] Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue[cdc.gov]

  • Baraitser-Winter Syndrome 1

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com] Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation.[ncbi.nlm.nih.gov]

  • Pelviscapular Dysplasia

    Sarcomatous dedifferentiation ( osteosarcoma [most common 10 ], fibrosarcoma, malignant fibrous histiocytoma, or rarely chondrosarcoma ) is occasionally seen ( 1%) and is[radiopaedia.org] Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and short neck NIH Rare Diseases : 54 Cousin syndrome is a rare syndrome characterized[malacards.org] UniProtKB/Swiss-Prot : 75 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism[malacards.org]

  • Spondylocarpotarsal Synostosis

    Malignancy is defined by presence of metastases that arise in sites devoid of chromaffin tissue such as bone. Malignant PGLs are extremely rare. Case presentation.[ccmbm.com] neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[mousephenotype.org] […] recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and peculiar facies (hypertelorism[medical-dictionary.thefreedictionary.com]

  • Legius Syndrome

    , as well as other rare conditions, including kidney and lung cancer ( 8 ).[doi.org] neck Excess skin on back of neck Wideset eyes Downslanting palpebral fissures Short, broad nose with flat tip Depressed nasal root Low-set ears that point toward the back[forgottendiseases.org] Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism[diseaseinfosearch.org]

  • Aarskog-Scott Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] 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] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org]

  • Freeman-Sheldon Syndrome

    Malignant hyperthermia Malignant hyperthermia or MH is a very rare severe problem which is normally activated by contact to certain medications used for general anesthesia[syndrome.org] Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance.[fsrgroup.org] […] facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism[ncbi.nlm.nih.gov]

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