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557 Possible Causes for Anterior Fontanelle Open in Adults, Thumb Hypoplasia

  • Cleidocranial Dysplasia

    The features include cleidocranial dysostosis, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the[jamanetwork.com] […] fingers and short, broad thumbs.[orpha.net] Other signs include broad flat forehead, hypertelorism, midface hypoplasia, and a pointed jaw giving a characteristic facial appearance as well as brachydactyly, tapering[orpha.net]

  • Holt Oram Syndrome

    Radial longitudinal deficiency and thumb hypoplasia were classified according to the modified Bayne and Klug classification and Blauth classifications, respectively, when[ncbi.nlm.nih.gov] This rare syndrome characterized by upper limb defects such as carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray are more frequent[ajner.com] [thumb aplasia] (35% - see photo 1st below), underdeveloped [thumb hypoplasia], but the anomaly may also manifest as a nonopposable, triphalangeal finger-like digit [first-web[handresearch.com]

    Missing: Anterior Fontanelle Open in Adults
  • Pyknodysostosis

    Pyknodysostosis is a rare lysosomal storage disease that follows an autosomal recessive inheritance pattern. It typically involves multiple skeletal deformities, as well as dwarfism. Features can be observed both clinically and radiologically. Pyknodysostosis is a genetic disease that is inherited with an autosomal[…][symptoma.com]

    Missing: Thumb Hypoplasia
  • Nager Syndrome

    Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones.[ncbi.nlm.nih.gov] The preaxial limb defects are characterized by radial and thumb hypoplasia or aplasia, duplication of thumbs and proximal radioulnar synostosis.[ncbi.nlm.nih.gov] Nager acrofacial dysostosis is a rare syndrome of unknown etiology combining mandibular and thumb/radial hypoplasia.[ncbi.nlm.nih.gov]

    Missing: Anterior Fontanelle Open in Adults
  • Congenital Longitudinal Deficiency of the Ulna

    Treatment of Thumb Hypoplasia The treatment of hypoplastic thumb is guided by stage of thumb hypoplasia and presence of carpometacarpal joint stability.[boneandspine.com] The association of radial deficiency with thumb hypoplasia. J Bone Joint Surg 2004;86A:2196 –2205 James MA, McCarroll HR Jr, Manske PR.[posna.org] […] involving the thumb, wrist, forearm  Ranges from mild thumb hypoplasia to complete absence of the radius  Bony abnormalities most pronounced  Deficiencies of the accompanying[slideplayer.com]

    Missing: Anterior Fontanelle Open in Adults
  • RAPADILINO Syndrome

    Other known symptoms include patellar aplasia/hypoplasia, thumb agenesis (or the absence of thumbs), radial aplasia/hypoplasia, dislocation of the joints, still interphalangeal[dianamossop.com]

    Missing: Anterior Fontanelle Open in Adults
  • Humero-Radial Synostosis

    We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia[ncbi.nlm.nih.gov] hypoplasia, carpal coalition, and problems of the cardiac, renal, neurologic, and GI systems.[medigoo.com] Associated Anomalies Hip dislocation Knee anomalies Clubfoot Polydactyly Syndactyly Madelung deformity Ligamentous laxity Thumb hypoplasia Carpal coalition Cardiac Anomalies[boneandspine.com]

    Missing: Anterior Fontanelle Open in Adults
  • Facioauriculoradial Dysplasia

    […] and hypoplasia of the second ray.[omim.org] , and thumb hypoplasia were rarely observed.[nature.com] The facial appearance of the mother suggested mild maxillary hypoplasia.[omim.org]

    Missing: Anterior Fontanelle Open in Adults
  • Baller-Gerold Syndrome

    We report an association of trigonocephaly and thumb hypoplasia in a 6.5-year-old boy, diagnosed as Baller-Gerold syndrome.[ncbi.nlm.nih.gov] We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset[ncbi.nlm.nih.gov] Radial ray hypoplasia or absent thumbs occur in a minority of cases. RAPADILINO syndrome is characterized by radial ray defects.[spandidos-publications.com]

    Missing: Anterior Fontanelle Open in Adults
  • Fetal Hydantoin Syndrome

    Physical findings included gum hypertrophy, digitalization of the thumbs, hypoplasia of the distal phalanges and nails, epicanthal folds, pseudohypertelorism, epidermoid cyst[ncbi.nlm.nih.gov] […] distal phalangeal hypoplasia acheiria Promoted articles (advertising)[radiopaedia.org] Limbs: Small or absent nails, hypoplasia of distal phalanges, altered palmar crease, digital thumb, dislocated hip Growth: Mild to moderate growth deficiency, usually prenatal[en.wikibooks.org]

    Missing: Anterior Fontanelle Open in Adults

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