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

  • Down Syndrome

    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] Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[patient.info] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Atelosteogenesis Type 2

    More than 200 inherited skeletal dysplasias are currently recognised.[socialstyrelsen.se] 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] 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]

  • Ring Chromosome 10

    Clinical features included development retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity.[eurekamag.com] hypotonia, normal to accelerated growth, autistic behaviour and minor dysmorphic features.[tp.amegroups.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]

  • Russell-Silver Syndrome

    Abstract A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism.[ncbi.nlm.nih.gov] hypotonia Generalized low muscle tone in neonate 0008935 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased[rarediseases.info.nih.gov] PURPOSE: The purpose of this study was to assess the occlusal characteristics of individuals with growth hormone deficiency (GHD), idiopathic short stature (ISS), and Russell-Silver[ncbi.nlm.nih.gov]

  • Baraitser Syndrome

    As a result of prenatal and postnatal growth retardation, most of these patients have a short stature.[ijpd.in] The first girl had neonatal hypotonia, mental retardation, and generalized tonic-clonic seizures.[omim.org] 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

    MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia, syndromic[mendelian.co] Patients with FOXG1 pathogenic variants often demonstrate normal birth parameters, followed by hypotonia and extreme irritability in the neonatal period.[chginc.org] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Nicolaides-Baraitser Syndrome

    Abstract In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe[insights.ovid.com] The neonatal period was complicated by muscular hypotonia, feeding difficulties, and failure to thrive. Bilateral inguinal hernias were operated.[ncbi.nlm.nih.gov] 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

    stature Radial bowing Urethral atresia Elbow flexion contracture Small nail Microtia, third degree Mesoaxial polydactyly Abnormality of the inner ear Short neck Aplasia/Hypoplasia[mendelian.co] […] criteria provided, single submitterCongenital giant melanocytic nevus, Obesity, Behavioral abnormality, Scoliosis, Abnormal facial shape, Hyperpigmentation of the skin, Neonatal[ncbi.nlm.nih.gov] 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

    A mentally retarded boy with short stature, craniofacial dysmorphia, clubfeet, hypertonia and several other congenital anomalies is described.[ncbi.nlm.nih.gov] Prader–Willi patients typically present with neonatal hypotonia and poor feeding.[plasticsurgerykey.com] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

  • Macrocephaly-Developmental Delay Syndrome

    stature, short stature, short stature, skeletal problems, macrocephaly, impairment delayed bone age, delayed bone age, skeletal problems, Marfan-like features, muscular hypotonia[molecularcytogenetics.biomedcentral.com] Out of these clinical criterion, seven clinical findings (neonatal hypotonia, midline facial nevus flammeus, connective tissue defect, developmental delay, toe syndactyly[ijpd.in] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

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