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435 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] Features included cryptorchidism in 94% males, preterm birth (26%), birthweight 28 days: 1-12 months in seven; and 3.75-10.5 years in five.[ncbi.nlm.nih.gov]

  • Down Syndrome

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[patient.info] RESULTS: Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96).[ncbi.nlm.nih.gov] Motor control and hypotonia Neonates with DS present with muscle hypotonia and many individuals with DS demonstrate some form of motor impairment, often described as clumsiness[doi.org]

  • Oculocerebrorenal Syndrome

    Neonatal hypotonia can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills (i.e. sitting, standing, and walking).[secure.ssa.gov] […] patients, short stature, mucocutaneous anomalies (eruptive vellus hair cysts, tricoepithiloma, excess skin folds and eruption cysts in oral cavity), dental malformations, cryptorchidism[orpha.net] Symptoms and Signs Affected individuals have congenital cataracts, glaucoma, corneal leukomas, renal failure, curved growth in subsequent years, and neonatal hypotonia.[medigest.uk]

  • 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 hypoglycemia genitourinary anomalies hypospadias cryptorchidism[radiopaedia.org]

  • 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] Thirteen of 25 males had bilateral cryptorchidism, and two were unilateral.[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]

  • Noonan Syndrome

    In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS.[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] Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart[ncbi.nlm.nih.gov]

  • King Syndrome

    Opitz Syndrome Neurocutaneous Syndromes NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND[rgd.mcw.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] We report a case of King's syndrome without the cryptorchidism and pectus carinatum associated with the syndrome.[ncbi.nlm.nih.gov]

  • Nemaline Myopathy

    RESULTS: Two patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which[ncbi.nlm.nih.gov] […] movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism[se-atlas.de] The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia.[ncbi.nlm.nih.gov]

  • Arthrogryposis Syndrome

    Abstract The clinical features of Prader–Willi Syndrome (PWS) in the neonate are marked by hypotonia, absence of crying, and feeding difficulties, but the clinical nature[nature.com] […] facial muscle contractures Musculoskeletal – scoliosis, restricted cervical flexion, joint contractures of hands, fingers, hips, knees, ankles, feet, and toes Genitalia – cryptorchidism[arupconsult.com] A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence … Avenues: A National Support Group for Arthrogryposis[ibis-birthdefects.org]

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