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633 Possible Causes for Cryptorchidism, Neonatal Hypotonia

  • Prader-Willi Syndrome

    Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS.[ncbi.nlm.nih.gov] Here we report a case of Prader-Willi syndrome, who presented at 16 years of age with diabetes mellitus and cryptorchidism.[ncbi.nlm.nih.gov] Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%).[ncbi.nlm.nih.gov]

  • Down Syndrome

    Cryptorchidism is a common and prevalent condition in patients with Down syndrome.[ncbi.nlm.nih.gov] Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96).[ncbi.nlm.nih.gov] The prevalence of cryptorchidism is high in patients with Down syndrome.[ncbi.nlm.nih.gov]

  • Russell-Silver Syndrome

    hypotonia Generalized low muscle tone in neonate 0008935 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased[rarediseases.info.nih.gov] […] retardation Normal head circumference Triangular face Fifth finger clinodactyly Normal psychomotor development Supportive criteria Short arm length Limb length asymmetry Cryptorchidism[en.wikibooks.org] Cryptorchidism requiring orchiopexy should be referred for proper hormonal and surgical management.[symptoma.com]

  • Spinal Muscular Atrophy

    […] birth in the neonates.[ncbi.nlm.nih.gov] Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism[ncbi.nlm.nih.gov] Spinal Muscular Atrophy should be kept in mind in the differential diagnosis for unexplained severe generalized hypotonia and severe respiratory distress immediately after[ncbi.nlm.nih.gov]

  • Trigonocephaly

    hypotonia.[ncbi.nlm.nih.gov] […] gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism[ncbi.nlm.nih.gov] A boy with trigonocephaly, cleft palate, multiple minor anomalies, flexion deformities of elbows, cryptorchidism, and severe muscular hypotonia had an unbalanced karyotype[ncbi.nlm.nih.gov]

  • 10q22.3q23.3 Microdeletion Syndrome

    hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal[mendelian.co] hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Smith-Magenis syndrome Sporadic fetal brain disruption sequence Temple syndrome due to paternal 14q32.2[se-atlas.de] Brachycephaly Upslanted palpebral fissure Highly arched eyebrow Strabismus Generalized hypotonia Gastroesophageal reflux Growth delay Cleft palate Poor speech Short nose Cryptorchidism[mendelian.co]

  • Cri Du Chat Syndrome

    The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation[ncbi.nlm.nih.gov] Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism.[ncbi.nlm.nih.gov] hypotonia Low muscle tone, in neonatal onset 0001319 Oppositional defiant disorder 0010865 Optic atrophy 0000648 Oral cleft Cleft of the mouth 0000202 Overfriendliness 0100025[rarediseases.info.nih.gov]

  • Cleft Palate

    hypotonia.[ncbi.nlm.nih.gov] The child was referred for multiple congenital anomalies: bilateral aplasia of the radius and thumb, left kidney agenesis, cardiac malformation cleft palate, bilateral cryptorchidism[ncbi.nlm.nih.gov] She shares much of the typical phenotype including moderate developmental delay, unusual facial features, small hands and feet, but not any growth delay or neonatal hypotonia[ncbi.nlm.nih.gov]

  • Beckwith-Wiedemann Syndrome

    Early diagnosis and thorough evaluation allows for potential improved management and prognosis of BWS urologic sequelae, including tumors, cryptorchidism and urinary tract[ncbi.nlm.nih.gov] […] neuroblastoma pancreatoblastoma hepatoblastoma placental pathology placentomegaly molar degeneration of placenta postnatal hypoglycaemia genitourinary anomalies hypospadias cryptorchidism[radiopaedia.org]

  • Neonatal Hypotonia

    The objectives of our study were to determine the actual frequency of the different disorders causing neonatal hypotonia and to assess the reliability of the first physical[ncbi.nlm.nih.gov] Cryptorchidism was monolateral in 6 and bilateral in 7 patients; in one newborn both testes were in scrotum.[ncbi.nlm.nih.gov] Both of the male patients had cryptorchidism.[unboundmedicine.com]

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