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15 Possible Causes for Cryptorchidism, Neonatal Hypotonia, Wide Space Between the First and Second Toe

  • 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] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • 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]

  • Ring Chromosome 10

    hypotonia, normal to accelerated growth, autistic behaviour and minor dysmorphic features.[tp.amegroups.com] Clinical features included development retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity.[eurekamag.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Atelosteogenesis Type 2

    Hydrocephalus Seizures Survival beyond neonatal period Normal karyotvpe - t 111 3 I4 0 19 2 I5 t - 515 10110 5 I5 NR 315 014 215 0 I4 515 013 414 NR 515 111 415 212 515 111[documents.tips] Psychomotor delay; seizures; cardiovascular anomalies, including aortic and pulmonary stenosis and septal defects; and genitourinary anomalies, including absent kidney and cryptorchidism[musculoskeletalkey.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Patients with FOXG1 pathogenic variants often demonstrate normal birth parameters, followed by hypotonia and extreme irritability in the neonatal period.[chginc.org] Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty[mendelian.co] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Weaver Syndrome

    Additional features that may be present include neonatal hypotonia, seizures, scoliosis, strabismus, congenital heart defects, and cancer (Kaneko et al. 1987 ; Hersh et al[ncbi.nlm.nih.gov] […] equinovarus, scoliosis or kyphosis, tall stature Other Manifestations umbilical hernia (100%) inguinal hernia (100%) excessive and loose skin of the neck or extremities (93%) cryptorchidism[sites.google.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Adactyly of Foot

    […] criteria provided, single submitterCongenital giant melanocytic nevus, Obesity, Behavioral abnormality, Scoliosis, Abnormal facial shape, Hyperpigmentation of the skin, Neonatal[ncbi.nlm.nih.gov] […] and pelvis; congenital absence of ulna and fibula; severe limb deficit Related symptoms: Autosomal recessive inheritance Micrognathia Cleft palate Abnormal facial shape Cryptorchidism[mendelian.co] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com]

  • Trisomy 10p

    Prader–Willi patients typically present with neonatal hypotonia and poor feeding.[plasticsurgerykey.com] Additionally, genital anomalies in males, such as cryptorchidism are a highly frequent phenotype associated with the deletion 10q26.[e-sciencecentral.org] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

  • Baraitser Syndrome

    The first girl had neonatal hypotonia, mental retardation, and generalized tonic-clonic seizures.[omim.org] Other clinical features include umbilical hernias, inguinal hernias, cryptorchidism, and cardiac defects. The etiology of this rare disorder is not known.[ijpd.in] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Nicolaides-Baraitser Syndrome

    The neonatal period was complicated by muscular hypotonia, feeding difficulties, and failure to thrive. Bilateral inguinal hernias were operated.[ncbi.nlm.nih.gov] Initial examination revealed left-sided torticollis, cryptorchidism, hypospadias and umbilical hernia.[jmg.bmj.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

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