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

  • Sanjad-Sakati Syndrome

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

  • Rothmund Thomson Syndrome

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

  • Mandibulofacial Dysostosis

    dentition, choanal atresia and mandibular retrusion, external ear malformations and conductive hearing loss. [2] [3] Ocular findings in Treacher Collins syndrome include:[eyewiki.aao.org] 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[ncbi.nlm.nih.gov] 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[coordinatedhealth.com]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    […] that are abnormally crowded together.[rarediseases.org] Respiratory and cranial muscles tend to be spared but may also be paralyzed ...bulbar and respiratory weakness can be fatal.[hkpp.org] 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[rarediseases.info.nih.gov]

  • Scapuloperoneal Spinal Muscular Atrophy

    […] dysostosis-hypospadias-intellectual disability syndrome Spondylodysplastic dysplasia Spondyloenchondrodysplasia Spondyloenchondromatosis Spondyloepimetaphyseal dysplasia-abnormal[orpha.net] 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.[eurekamag.com] hand Talipes equinovarus Abnormality of the musculature ... ...[familydiagnosis.com]

  • Wiedemann-Steiner Syndrome

    […] of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Aggressive behavior Aggression Aggressive behaviour Aggressiveness[rarediseases.info.nih.gov] Respiratory disorders, hypertrichosis, and early death uniquely characterize the marshall-smith syndrome.[icd10data.com] It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on[orpha.net]

  • Cleidocranial Dysplasia

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

  • Congenital Generalized Hypertrichosis Type Ambras

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

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    […] of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Autosomal recessive inheritance 0000007 Biconcave vertebral bodies[rarediseases.info.nih.gov] 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[biopharmaglobal.com] Hand epiphyses are small and fragmented. Inheritance is autosomal dominant and no gene has been identified to date.[kundoc.com]

  • Robinow Syndrome

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

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