Pallister–Hall syndrome

[2] The syndrome was originally described by American and Canadian geneticists Philip Pallister and Judith Hall in their research of newborn deaths due to pituitary failure.[3] Subsequent discovery of living children and adults expanded the understanding of the syndrome and established the transmission pattern within families.[8] Before birth the GLI3 gene delivers directions for protein creation that turns on or off development of cells that produce organs and tissues.Central characteristics of the disorder include polydactyly (extra digits on limbs) with possible cutaneous syndactyly (fusion or webbed skin between some fingers or toes) and a hypothalamic hamartoma, a rare brain lesion on the hypothalamus that is present at birth.Parents and medical practitioners should monitor for signs of endocrine disruption in sleep, eating, or hormonal issues, such as precocious puberty caused by the hypothalamic hamartoma.

autosomal dominantSpecialtyMedical geneticsNamed afterJudith Goslin Hallhypothalamic hamartomapolydactylismJudith Hallpolydactylylaryngeal cleftimperforate anuskidneygelastic epilepsytonic-clonicabsence seizurestemporal lobe epilepsyCurry, Cynthia J.DiseasesDBGenetic disorderstranscription factorFeingold syndromeSaethre–Chotzen syndromeTietz 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 syndromeDenys–Drash syndromeDuane-radial ray syndromeMODY 7MRX 89Townes–Brocks syndromeAcrocallosal syndromeMyotonic dystrophy 2Autoimmune polyendocrine syndrome type 1Ohtahara syndromeLissencephaly X2Currarino syndromeHOXD13SPD1 synpolydactylyMODY 4Nail–patella syndromeTooth 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 syndromeHolt–Oram 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 coregulatorsCREBBPRubinstein–Taybi syndromeAtrichia with papular lesionsPhakomatosisAngiomatosisSturge–Weber syndromeVon Hippel–Lindau diseaseHamartomaTuberous sclerosisMegalencephalyMultiple hamartoma syndromeProteus syndromeCowden syndromeBannayan–Riley–Ruvalcaba syndromeLhermitte–Duclos diseaseNeurofibromatosisType IType IIAbdallat–Davis–Farrage syndromeAtaxia telangiectasiaIncontinentia pigmentiPeutz–Jeghers syndromeEncephalocraniocutaneous lipomatosis