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17 Possible Causes for Muscle Hypotonia, Short Neck, Wide Space Between the First and Second Toe

  • Down Syndrome

    Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com] From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Craniofrontonasal Dysplasia

    neck Short stature Split nail Telecanthus Toe syndactyly Umbilical hernia Unilateral breast hypoplasia Wide nasal bridge Widow's peak X-linked dominant inheritance Last updated[familydiagnosis.com] Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.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]

  • Dubowitz Syndrome

    The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] neck Apart from these, there are secondary signs and features that are noted in a few children.[dovemed.com]

  • Ring Chromosome 10

    neck Decreased length of neck 0000470 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thin vermilion border Decreased volume of lip Thin lips [ more ][rarediseases.info.nih.gov] Low or weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap[rarediseases.info.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]

  • Weaver Syndrome

    The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and[ncbi.nlm.nih.gov] Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.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

    […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] He had difficulty in walking, mild proximal muscular hypotonia in the lower extremities and hyperactive deep tendon reflexes.[nature.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]

  • Macrocephaly-Developmental Delay Syndrome

    neck q32 qter 18056692 older sister has ventricular septal defect Edit 26 18056692_1 46,XY, der(5)t(5;7)(q35;?)[chr7.org] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.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]

  • Cutis Laxa

    neck and diastase of the abdominal muscles.[scielo.br] Individuals with EFEMP2 -related cutis laxa usually present with muscle hypotonia. Other common findings are arachnodactyly, joint laxity, and pectus deformities.[ncbi.nlm.nih.gov] Developmental delay is observed in the majority of patients (mainly due to muscle hypotonia and joint laxity) but brain anomalies are rare.[link.springer.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] nose; Upturned nasal tip; [Mouth]; Large, carp-shaped mouth; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Ventricular septal defect; Atrial septal defect RESPIRATORY: Frequent[genome.jp] Cramp Muscle Hypertonia Muscle Hypotonia Muscle Neoplasms Muscle Rigidity Muscle Spasticity Muscle Weakness Muscular Atrophy Muscular Atrophy, Spinal Muscular Diseases Muscular[medgene.med.harvard.edu] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Trisomy 10p

    Although the translocation also results in monosomy for Xq21-qter, she does not have any major stigmata of Turner’s syndrome, except for a short neck and broad chest, although[jmg.bmj.com] Hypotonia Respiratory System Hypoplastic And Cystic Lungs And Abnormal Lobulation Gastrointestinal System Agenesis Of Gallbladder Anal Atresia Synonyms: 10P Syndrome 10P[neo-genetics.com] Signs and symptoms that can be present in a person with a 10p duplication may include delay of development, motor skills, or growth; short stature ; low muscle tone ( hypotonia[rarediseases.info.nih.gov]

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