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630 Possible Causes for Cryptorchidism, Hypertelorism, Rarely Malignant

  • 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] Genitourinary Manifestations 'shawl' scrotum (80%) cryptorchidism (75%) inguinal hernia (60%) 3.[web.archive.org] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developmental deficit, cryptorchidism, skeletal, and other[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[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] RESULTS: Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96).[ncbi.nlm.nih.gov] Among the men, the frequency of hypospadias and cryptorchidism was similar to that of the general population.[dx.doi.org]

  • Dubowitz Syndrome

    Rare reports have described malignant tumors (primarily of hematologic origin), aplastic anemia and immunological deficits (IgA deficiency).[symptoma.com] Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects.[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] Images References Signs / Symptoms (31) Gastrointestinal Diaphragmatic hernia Genitourinary Absence of labia majora Cryptorchidism Hypospadias of the male genitalia Limbs[datagenno.com] Other associated features include ocular hypertelorism, nuchal edema or cystic neck masses, loose skin, decreased muscle mass and hypoplastic lungs.[fetalultrasound.com]

  • Mowat-Wilson Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[sites.uclouvain.be] Hypospadias and cryptorchidism are some of the frequent genitourinary findings.[symptoma.com] […] congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism[ncbi.nlm.nih.gov]

  • King Syndrome

    Exercise-induced heat stress rarely precipitates malignant hyperthermia.[disorders.eyes.arizona.edu] In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and[ncbi.nlm.nih.gov] Note the dysmorphic changes: ptosis, down-slanting palpebral fissures, hypertelorism, malar hypoplasia and micrognathia. (Photo authorized by the legal responsible).[zdoc.site]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    […] in human malignancies: implications for Noonan syndrome patients.[karger.com] […] developmental, genetic, neoplastic, neurological Phenotypes Aortic valve stenosis ; Autosomal dominant inheritance ; Bicuspid aortic valve ; Cafe-au-lait spot ; Chylothorax ; Cryptorchidism[mousephenotype.org] The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects.[uniprot.org]

  • Gorlin 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] Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and[ncbi.nlm.nih.gov] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov]

  • Schinzel-Giedion Syndrome

    Primary extradural ependymomas are rare neoplasms usually of the myxopapillary type. Reports on malignant primary extradural ependymal tumors are exceptionally rare.[ncbi.nlm.nih.gov] Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on[ncbi.nlm.nih.gov] At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open.[ncbi.nlm.nih.gov]

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