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10 Possible Causes for Absent or Hypoplastic Thumbs, Buccal Frenulae

  • 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] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] Thumbs, absent or hypoplastic (100%). Gastrointestinal. Imperforate anus (40%). Genitourinary (35%). Ectopic, hypoplastic, dysplastic or absent kidney. Ramos-Fuentes FJ.[fetalultrasound.com]

  • X-Linked Mandibulofacial Dysostosis

    The radial rays are affected, and patients may present with hypoplastic or absent thumbs, radioulnar synostosis, and/or radius and 1 or more metacarpal bones that are hypoplastic[emedicine.medscape.com] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] […] or absent.[emedicine.medscape.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery pter qter 7341641, 10594874, 12124684, 16092121[chr7.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org] […] abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent[chr7.org]

  • Pallister W Syndrome

    There are overlapping features in TBS and Baller-Gerold syndrome, including thumb anomalies (usually absent or hypoplastic in Baller-Gerold syndrome), imperforate anus, and[jmg.bmj.com] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] ; [Feet]; Toe syndactyly; Preaxial or postaxial polydactyly; Duplicated halluces NEUROLOGIC: [Central nervous system]; Severe mental retardation; Hypoplastic or absent corpus[findzebra.com]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    thumbs Hypoplastic/absent radii Proximal radioulnarsynostosis Lower limb anomalies Toe anomalies OtherNormal cognitivedevelopment 76 Kennedy and Teebi[documents.tips] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] thumbs, clinodactyly, and syndactyly.[eyewiki.aao.org]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    hypoplastic radius - Absent/hypoplastic thumb - Congenital heart defect, esp ASD secundum Other feats may incl other hypoplastic UL bones, syndactyly, absent pectoralis muscles[quizlet.com] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org] Note the hypoplasia of the distal phalanges with hypoplastic or absent nails and the digital thumbs. There is mild webbing. Figure 3.15.[rrnursingschool.biz]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    When the radius is hypoplastic the thumb can be either hypoplastic or absent. With thumb hypoplasia there is usually some hypoplasia of the 1st metacarpal.[rrnursingschool.biz] Lateral clefts of the palate are produced by bilateral grooves arising from the maxillary buccal frenula.[healio.com] Hands: broad thumb brachydactyly syndactyly short metacarpals short phalanges (middle phalanges) Genitourinary Internal Genitalia Male: cryptorchidism Cardiovascular Heart[malacards.org]

  • Grebe Syndrome

    Bilateral apla-sia of the tibia, polydactyly and absent thumbs in father and daughter.[rrnursingschool.biz] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] Dominant mesomelic dwarfism of the hypoplastic tibia, radius type. Clin Genet 1975; 7: 280-5 Pashayan H, Fraser FC, Mclntyre JM, Dunbar JS.[rrnursingschool.biz]

  • Preaxial Hallucal Polydactyly

    BONE-ANATOMIC: Fingers and Toes D-117-1 Congenital Thumb Abnormalities - Absent Thumb D-117-2 Congenital Thumb Abnormalities - Hypoplastic Thin or Short Thumb D-117-3 Congenital[gamuts.isradiology.org] Hereditary abnormality of the buccal mucosa: abnormal bands and frenula. Revuede stomatologic 1994; 55: 209-27. 3.Toriello HV. Oral facial digital syndromes.[jpma.org.pk]

  • Craniosynostosis with Ocular Abnormalities and Hallucal Defects

    Radial defects, including hypoplastic/absent/bifid thumb as well as absent radius, require reconstruction.[musculoskeletalkey.com] […] between the buccal mucous membrane and alveolar ridge.[plasticsurgerykey.com] […] centers Bipartite calcaneus Lambdoidal craniosynostosis Hypoplastic cervical vertebrae Large joint dislocations Abnormality of the hypothalamus-pituitary axis Prominent nose[mendelian.co]

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