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432 Possible Causes for Abnormal Dentition, Respiratory Disorders, Small Hand

  • Sanjad-Sakati Syndrome

    dentition and increased susceptibility to infection.[] respiratory infections, and constipation.[] All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[]

  • Rothmund Thomson Syndrome

    , nail abnormality, hyperkeratosis, and mental retardation.[] Gastrointestinal, respiratory, and hematological disorders have also been reported in a few patients. Ocular manifestations have not been established completely.[] It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[]

  • Mandibulofacial Dysostosis

    dentition, choanal atresia and mandibular retrusion, external ear malformations and conductive hearing loss. [2] [3] Ocular findings in Treacher Collins syndrome include:[] Upper airway obstruction may be a complication from craniofacial disorders and may be responsible for life-threatening sleep apnea that may result in pneumonia or respiratory[] This may show: Advanced bone age Bone deformities in hands and feet Delays in growth Problems with the skin, genitals, teeth, and skeleton Short arms and legs with small hands[]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    […] that are abnormally crowded together.[] Respiratory and cranial muscles tend to be spared but may also be paralyzed ...bulbar and respiratory weakness can be fatal.[] hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or[]

  • Scapuloperoneal Spinal Muscular Atrophy

    […] dysostosis-hypospadias-intellectual disability syndrome Spondylodysplastic dysplasia Spondyloenchondrodysplasia Spondyloenchondromatosis Spondyloepimetaphyseal dysplasia-abnormal[] Neuromuscular Disorders 23(7): 602-609, 2014 Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.[] hand Talipes equinovarus Abnormality of the musculature ... ...[]

  • Wiedemann-Steiner Syndrome

    […] of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Aggressive behavior Aggression Aggressive behaviour Aggressiveness[] Respiratory disorders, hypertrichosis, and early death uniquely characterize the marshall-smith syndrome.[] It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on[]

  • Cleidocranial Dysplasia

    dentition).[] Causes Cleidocranial dysplasia is a rare disorder that is usually inherited as an autosomal dominant genetic trait.[] […] bones of the hands and feet Deformities of the thorax, spine, and pelvis Prolapsed of the virginal uterus Inguinal hernia Spina bifida.[]

  • Congenital Generalized Hypertrichosis Type Ambras

    This family probably, a syndromic type with abnormal dentition, inherited as an autosomal dominant trait.[] […] disease respiratory illness respiratory disorder a disease affecting the respiratory system respiratory distress syndrome respiratory distress syndrome of the newborn hyaline[] The patients may have short and abnormal arms, hands and feet. They may suffer from severe mental retardation.[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    […] of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Autosomal recessive inheritance 0000007 Biconcave vertebral bodies[] Sponastrime dysplasia is a rare autosomal recessive bone disorder which causes the patient to have short height as well as respiratory stenosis, joint, and vertebral deformity[] Hand epiphyses are small and fragmented. Inheritance is autosomal dominant and no gene has been identified to date.[]

  • Robinow Syndrome

    Treatment Considerations/Other Cleft lip/palate Surgical correction Management by multidisciplinary craniofacial team recommended Misaligned teeth or persistent primary dentition[] Associated conditions include frequent ear infections, hearing loss, developmental and respiratory disorders, hypotonia, eating difficulties and esophageal reflux.[] […] stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Thin upper lip vermilion Thin upper lip 0000219 Upslanted palpebral fissure Upward slanting of[]

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