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396 Possible Causes for Epicanthal Folds, Hypertelorism, Rarely Malignant

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[symptoma.com] 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] Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears,[britannica.com] […] 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]

  • 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] folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down, Down's, trisomy[merriam-webster.com] In 1876 he specifically identified the fold of skin at the inner corner of the eyes which he described as epicanthic folds and he also noted that the ear was usually placed[intellectualdisability.info]

  • 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] Clinical Characteristics Ocular Features: Ptosis (both unilateral and bilateral), hypertelorism, prominent epicanthal folds, and colobomata are common.[disorders.eyes.arizona.edu] 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]

  • Dubowitz Syndrome

    Rare reports have described malignant tumors (primarily of hematologic origin), aplastic anemia and immunological deficits (IgA deficiency).[symptoma.com] Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones.[ncbi.nlm.nih.gov] Fig 2: A 9-year-old boy with Dubowitz syndrome with dental anomalies, hypertelorism, and unilateral ptosis.[healio.com]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium 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] Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and[orpha.net] Other associated features include ocular hypertelorism, nuchal edema or cystic neck masses, loose skin, decreased muscle mass and hypoplastic lungs.[fetalultrasound.com]

  • Blepharophimosis

    Malignant hyperthermia is a rare complication but associated with musculoskeletal ocular surgery such as ptosis surgery.[nature.com] folds.[ncbi.nlm.nih.gov] We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate[ncbi.nlm.nih.gov]

  • 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] Her brother had ocular hypertelorism ( Figure-1 ), inner epicanthal folds, prominent ears, malar hypoplasia, small nose, broad nasal bridge, retrognathia, micropenis, bilaterally[scielo.br] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org]

  • Chromosome 18p Deletion Syndrome

    This deletion has been observed in both myeloid (14 cases) and lymphoid (10 cases) malignancies and has been predominantly associated with a complex karyotype.[atlasgeneticsoncology.org] folds * Epicanthal folds * Glaucoma * Graves disease * Growth retardation * Highly arched palate * Hip dislocation * Juvenile diabetes * Large mouth * Low nasal bridge *[checkorphan.org] The patient presented with characteristic features of single nostril, hypertelorism, ptosis, down slanting eyes, microcephaly and short neck [Figure 1].[jisppd.com]

  • Ring Chromosome 18

    Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies but have been reported in up to 70% of mesenchymal tumors[ 1[jhoonline.biomedcentral.com] He had growth and developmental delay, mental and motor retardation, microcephaly, microphtalmia, triangle face, small dysplastic ears, strabismus, epicanthal folds on the[ncbi.nlm.nih.gov] The fetus had microcephaly, hypertelorism, epicanthal folds, cleft palate, a broad flat nose, simian creases, broad hands, tapered fingers, clubfeet, micropenis, a sacral[ncbi.nlm.nih.gov]

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