Holt–Oram syndrome

[3] People with Holt–Oram syndrome may also have abnormalities in the electrical system that coordinates contractions of the heart chambers.[1][2] People with Holt-Oram syndrome may have only congenital heart defects, only cardiac conduction disease, both or neither.[1] The TBX5 gene produces a protein that is critical for the proper development of the heart and upper limbs before birth.[2] If the symptoms aren't enough to diagnose, a person may undergo genetic testing for the mutations associated with the syndrome.Surgery, prosthetics and physical or occupational therapy can help people with bone abnormalities.

SpecialtyMedical geneticsautosomal dominant disorderradial boneatrial septal defectwrist bonelooks like a fingerupper arm bonescollar boneshoulder bladeventricular septal defectelectrical system that coordinates contractions of the heart chambersbradycardiafibrillationheart blockautosomal dominantmutationgenetic testingAbsent radiusHeart-hand diseasesDiseasesDBSNOMED CTeMedicineGeneReviewsOrphanetCongenital abnormalityCraniofacialAcrocephalosyndactylyApert syndromeCarpenter syndromePfeiffer syndromeSaethre–Chotzen syndromeSakati–Nyhan–Tisdale syndromeBonnet–Dechaume–Blanc syndromeBaller–Gerold syndromeCyclopiaGoldenhar syndromeMoebius syndromePierre Robin sequenceShort stature1q21.1 deletion syndromeAarskog–Scott syndromeCockayne syndromeCornelia de Lange syndromeDubowitz syndromeNoonan syndromeRobinow syndromeSilver–Russell syndromeSeckel syndromeSmith–Lemli–Opitz syndromeSnyder–Robinson syndromeTurner syndromeAdducted thumb syndromeKlippel–Trénaunay syndromeNail–patella syndromeRubinstein–Taybi syndromeGastrulationmesodermCaudal regression syndromeEctromeliaSirenomeliaVACTERL associationOvergrowth syndromesBannayan–Riley–Ruvalcaba syndromeBeckwith–Wiedemann syndromeBenign symmetric lipomatosisNeurofibromatosis type IPerlman syndromeProteus syndromeSotos syndromeTatton-Brown–Rahman syndromeWeaver syndromeBardet–Biedl syndromeLaurence–Moon syndromeFeingold syndromeZimmermann–Laband syndromeFraser syndromeBranchio-oto-renal syndromeCHARGE syndromeKeutel syndromeTimothy syndromeMarfan syndromeDonohue syndromeFryns syndromeGenetic disorderstranscription factorTietz syndromeIntracellular receptorThyroid hormone resistanceAndrogen insensitivity syndromeKennedy's diseasePHA1AD pseudohypoaldosteronismEstrogen insensitivity syndromeX-linked adrenal hypoplasia congenitaMODY 1Familial partial lipodystrophy 3SF1 XY gonadal dysgenesisBarakat syndromeTricho–rhino–phalangeal syndromeGreig cephalopolysyndactyly syndromePallister–Hall syndromeDenys–Drash syndromeDuane-radial ray syndromeMODY 7MRX 89Townes–Brocks syndromeAcrocallosal syndromeMyotonic dystrophy 2Autoimmune polyendocrine syndrome type 1Ohtahara syndromeLissencephaly X2Currarino syndromeHOXD13SPD1 synpolydactylyMODY 4Tooth and nail syndromeAxenfeld syndrome 1POU4F3DFNA15POU3F4Posterior polymorphous corneal dystrophyFuchs' dystrophy 3Mowat–Wilson syndromePapillorenal syndromeWaardenburg syndrome 1&3MODY 9Gillespie syndromeColoboma of optic nerveCongenital hypothyroidism 2STHAG3Axenfeld syndrome 3Iridogoniodysgenesis, dominant typeLymphedema–distichiasis syndromeBamforth–Lazarus syndromeAnterior segment mesenchymal dysgenesisACD/MPVEnlarged vestibular aqueductPremature ovarian failure 3Van der Woude syndromePopliteal pterygium syndromeHyperimmunoglobulin E syndromeLi–Fraumeni syndromeUlnar–mammary syndromeCampomelic dysplasiaMODY 3MODY 5SRY XY gonadal dysgenesisPremature ovarian failure 7Waardenburg syndrome 4cYemenite deaf-blind hypopigmentation syndromeCleidocranial dysostosisKabuki syndromePitt–Hopkins syndromeRapp–Hodgkin syndromeHay–Wells syndromeEctrodactyly–ectodermal dysplasia–cleft syndrome 3Limb–mammary syndromeTranscription coregulatorsCREBBPAtrichia with papular lesions