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276 Possible Causes for Absent or Hypoplastic Thumbs, Mild Maxillary Prognathism

  • Baller-Gerold Syndrome

    In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental[ncbi.nlm.nih.gov] Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[rrnursingschool.biz] Thumbs, absent or hypoplastic (100%). Gastrointestinal. Imperforate anus (40%). Genitourinary (35%). Ectopic, hypoplastic, dysplastic or absent kidney. Ramos-Fuentes FJ.[fetalultrasound.com]

  • Nager Syndrome

    Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones.[ncbi.nlm.nih.gov] […] or absent thumbs.[gynecology-obstetrics.imedpub.com] Keywords Nager syndrome; Acrofacial dysostosis; Branchial arch; Malar and mandibular hypoplasia; Ankylosis of temporo-mandibular joint; Hypoplastic thumb; Absent radius Introduction[omicsonline.org]

    Missing: Mild Maxillary Prognathism
  • Facioauriculoradial Dysplasia

    […] radius mesomelic arm shortening more Head And Neck Eyes: downslanting palpebral fissures Cardiovascular Heart: sinus arrhythmia Skeletal Hands: hypoplastic to aplastic thumbs[malacards.org] The thumbs may be absent or hypoplastic and there may be hypoplasia of the radius with radioulnar synostosis.[link.springer.com] […] rudimentary 2nd metacarpal club hand absent second finger Clinical features from OMIM: 171480 Human phenotypes related to Phocomelia-Ectrodactyly, Ear Malformation, Deafness[malacards.org]

    Missing: Mild Maxillary Prognathism
  • Holt Oram Syndrome

    […] presented with milder anomalies such as absent or hypoplastic thumbs but without arm abnormalities.[ncbi.nlm.nih.gov] They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies.[ijms.sums.ac.ir] Two patients had absent thumbs and first metacarpals, hypoplastic radii, and atrial and ventricular septal defects.[ncbi.nlm.nih.gov]

    Missing: Mild Maxillary Prognathism
  • Tricho-Retino-Dento-Digital Syndrome

    […] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic[mindmappedia.com] […] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental[wikidoc.org] […] chromosome breakage Thrombocytopenia multiple congenital anomaly Thrombocytopenic purpura, autoimmune Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thumb[mindmappedia.com]

    Missing: Mild Maxillary Prognathism
  • Fanconi Anemia

    […] bone marrow, renal hypoplasia, absent or hypoplastic thumbs or radii, short stature and other anomalies; some patients have milder phenotype Thrombocytopenia: often the first[pathologyoutlines.com] These conditions in medical terminology are described as absent, hypoplastic or bifid thumb and hypoplastic or absent radii respectively.[pediatriconcall.com] […] features with occasional patients that are phenotypically normal (up to 30% according to some studies) Progressive lethal anemia associated with brown skin pigmentation, hypoplastic[pathologyoutlines.com]

    Missing: Mild Maxillary Prognathism
  • Diamond-Blackfan Anemia

    […] kidney upper limb: absent thumb, hypoplastic thumbs, triphalangeal thumb Promoted articles (advertising)[radiopaedia.org] […] kidney upper limb: absent thumb , hypoplastic thumbs, triphalangeal thumb Promoted articles (advertising)[radiopaedia.org] ., hypoplastic thumbs, syndactyly), heart (e.g., ventricular septal defects, atrial septal defects, coarctation of the aorta, tetralogy of Fallot) and genitourinary track[clinicaladvisor.com]

    Missing: Mild Maxillary Prognathism
  • Gram-Negative Septicaemia

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[orpha.net]

    Missing: Mild Maxillary Prognathism
  • RAPADILINO Syndrome

    The characteristic manifestations are radial aplasia or hypoplasia, absence of thumbs, absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly[ncbi.nlm.nih.gov] , absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence.[archivesofrheumatology.org] , patellar aplasia, short stature, RAPADILINO syndrome Abstract RAPADILINO syndrome is described multimalformation syndrome with radial aplasia or hypoplasia, absence of thumbs[archivesofrheumatology.org]

    Missing: Mild Maxillary Prognathism
  • Nail-Patella Syndrome

    , or absent thumb nails; iliac horns; and elbow abnormalities. 1 Nephropathy is a known association 2 and may be a cause of death.[jamanetwork.com] […] or hypoplastic patellae Dislocated joints Cleft palate Facial dysmorphism Short stature Radial defects, including absent or hypoplastic thumbs & radii AR inheritance OMIM[ncbi.nlm.nih.gov] […] finger nails Facial dysmorphism OMIM 135900, Winter & Baraitser [2000] RAPADILINO syndrome (see Rothmund-Thomson Syndrome, Genetically Related Disorders) Radial defects Absent[ncbi.nlm.nih.gov]

    Missing: Mild Maxillary Prognathism

Further symptoms