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589 Possible Causes for Hypertelorism, Rarely Malignant, Short Finger

  • Saethre-Chotzen Syndrome

    This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related[ncbi.nlm.nih.gov] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] Since the autosomal dominant Saethre-Chotzen syndrome may show similar cranio-facial features, short fingers with non-obligatory cutaneous syndactyly, and ossification defects[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] […] wide nostrils Thick, tough skin Short, broad hands with curving fingers Knock-knees and walking on toes Curved spine Continued MPS I can show up in a lot of different ways[webmd.com] […] genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy[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] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] 5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short nose Decreased length of nose Shortened[rarediseases.info.nih.gov]

  • Gorlin-Chaudhry-Moss Syndrome

    TLS was rarely described in patients with malignant melanoma.[biomedsearch.com] […] vaulted, narrow palate, cleft soft palate), ear (hypoplastic lobe and deafness), and skull (midface hypoplasia, brachycephaly, premature synostosis of the coronal sutures, hypertelorism[accessanesthesiology.mhmedical.com] Since the autosomal dominant Saethre-Chotzen syndrome may show similar cranio-facial features, short fingers with non-obligatory cutaneous syndactyly, and ossification defects[read.qxmd.com]

  • Acrootoocular Syndrome

    We can help you with your rare disease diagnosis.[mendelian.co] BEARE-STEVENSON SYNDROME/Proptosis, hypertelorism, downslanting palpebral fissures/AD/FGFR2/#123790 BECKWITH-WIEDEMANN SYNDROME/Deep-set eyes, hypertelorism, epicanthal folds[eyewiki.org] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[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] fingers with narrow nails Outward-turning elbows Delayed growth Infants are more likely to have lymphedema (swollen hands and feet) and be under average height at birth.[news-medical.net]

  • 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] […] stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called[merriam-webster.com] […] hands with short fingers White spots on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[nlm.nih.gov]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] fingers or toes 0001156 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Hypogonadism Decreased activity of gonads 0000135 Lymphedema Swelling[rarediseases.info.nih.gov]

  • Acrocallosal 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] […] moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism[ncbi.nlm.nih.gov] fingers or toes 0001156 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Hypopigmentation of the fundus 0007894 Postnatal growth retardation[rarediseases.info.nih.gov]

  • Oculo-Osteo-Cutaneous Syndrome

    Full Causes List for Myopia » Genetics of Myopia Degenerative myopia (also called pathological or malignant myopia) is a rare and mostly inherited type of myopia that begins[familydiagnosis.com] The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears.[mendelian.co] […] eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short fingers short metacarpals (3rd-5th) Skin Nails Hair Skin: albinoidism Head And Neck Eyes: cataract[malacards.org]

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