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276 Possible Causes for Absent or Hypoplastic Thumbs, Multiple Buccal Frenula, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] buccal frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation[humpath.com] Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula[ncbi.nlm.nih.gov]

    Missing: Absent or Hypoplastic Thumbs
  • Craniosynostosis Type 3

    buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple[rrnursingschool.biz]

    Missing: Absent or Hypoplastic Thumbs
  • 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] buccal 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]

    Missing: Syndactyly between Adjacent Toes
  • 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] buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] […] or absent.[emedicine.medscape.com]

    Missing: Syndactyly between Adjacent Toes
  • Syndactyly

    Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] , partially absent, totally absent Ulna: normal vs. short /- bowed Trapezium, scaphoid: absent hypoplastic Thumb Phalanges /- absent radial digits hyplastic / absent Muscles[brainscape.com] Definition (MSH) A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[fpnotebook.com]

    Missing: Multiple Buccal Frenula
  • Cenani Syndactylism

    Definition : A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[reference.md] […] the thumb was clearly present, fused with the index finger, although in a hypoplastic state and deviated from its normal position.[updoc.site] Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex.[reference.md]

    Missing: Multiple Buccal Frenula
  • 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: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • 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: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • 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: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Growth Failure

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org]

    Missing: Absent or Hypoplastic Thumbs Syndactyly between Adjacent Toes