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996 Possible Causes for Thumb Hypoplasia

  • Holt Oram Syndrome

    Radial longitudinal deficiency and thumb hypoplasia were classified according to the modified Bayne and Klug classification and Blauth classifications, respectively, when[] [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[] 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[]

  • 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[] & great toes Absence/hypoplasia of thumbs, halluces & distal phalanges Gracile bones Brain malformations CDAGS syndrome (OMIM 603116 ) Unknown AR Craniosynostosis, delayed[] […] closure of fontanels, cranial defects, clavicular hypoplasia 1 Anal and genitourinary malformations Skin eruption Craniosynostosis Anal anomalies Skin lesions (porokeratosis[]

  • 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.[] The association of radial deficiency with thumb hypoplasia. J Bone Joint Surg 2004;86A:2196 –2205 James MA, McCarroll HR Jr, Manske PR.[] […] involving the thumb, wrist, forearm  Ranges from mild thumb hypoplasia to complete absence of the radius  Bony abnormalities most pronounced  Deficiencies of the accompanying[]

  • Nager Syndrome

    Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones.[] The preaxial limb defects are characterized by radial and thumb hypoplasia or aplasia, duplication of thumbs and proximal radioulnar synostosis.[] […] at 3 years showing typical facial features of Nager syndrome. ( g ) Hypoplasia of right thumb in P1 (left thumb has been surgically removed). ( h – j ) Milder features of[]

  • Facioauriculoradial Dysplasia

    Congenital Limb Deficiency Disorders and thumb hypoplasia may have a parent with only mild thumb hypoplasia or a triphalangeal thumb).[] […] and hypoplasia of the second ray.[] Isolated thumb hypoplasia or triphalangeal thumb is the mildest manifestation of a radial ray (preaxial) deficiency.[]

  • 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[]

  • 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[] hypoplasia, carpal coalition, and problems of the cardiac, renal, neurologic, and GI systems.[] Associated Anomalies Hip dislocation Knee anomalies Clubfoot Polydactyly Syndactyly Madelung deformity Ligamentous laxity Thumb hypoplasia Carpal coalition Cardiac Anomalies[]

  • Baller-Gerold Syndrome

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

  • Brachydactyly of Fingers

    Thumb Hypoplasia Classification These tables and images were adapted from a 2004 paper addressing radial ray digit defects and thumb hypoplasias.[] Thumb hypoplasia Overview “Hypoplasia” means “under-developed.”[] Representative examples include syndactyly, polydactyly, brachydactyly, and thumb hypoplasia.[]

  • Isolated Congenital Breast Hypoplasia or Aplasia

    Isolated thumb hypoplasia in a 1-month-old baby boy. There is thumb hypoplasia, with major involvement of the 1st metacarpal.[] hypoplasia / aplasia / absence - Thymic aplasia / hypoplasia - Vesicorenal / vesicoureteral reflux[] Findings may include absence or hypoplasia of the radius, absence or hypoplasia of the scaphoid and trapezium bones of the wrist, or abnormalities of the thumb and the first[]

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