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61 Possible Causes for Patellar Hypoplasia or Aplasia

  • RAPADILINO Syndrome

    From Wikidata Jump to navigation Jump to search Human disease Radial and patellar hypoplasia Radial and patellar aplasia RAPADILINO SYNDROME Absent thumbs, dislocated joints[wikidata.org] RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet. 1989 Jul;33(3):346-51. PMID: 2801769[humpath.com] 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]

  • Nail-Patella Syndrome

    Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy[ncbi.nlm.nih.gov] The patellar changes often involve aplasia, hypoplasia, and chronic dislocation.[ncbi.nlm.nih.gov] […] by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.[orpha.net]

  • Foot Deformity

    In addition to the classic tetrad of fingernail and toenail dysplasia, patellar aplasia, iliac horns, and radial head hypoplasia and dislocation, she also had scoliosis, proteinuria[ncbi.nlm.nih.gov]

  • Rothmund Thomson Syndrome

    aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [ 2 SDs below the mean in height] and LImb malformation,[ncbi.nlm.nih.gov] Other features in individual cases include cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia and sensorineural deafness.[ncbi.nlm.nih.gov] […] or hypoplasia, osteopenia, dislocation of the radial head, radial aplasia or hypoplasia, and patellar ossification defects.[ncbi.nlm.nih.gov]

  • Patellar Dislocation

    Patella aplasia-hypoplasia is a rare condition characterized by the congenital absence or marked reduction of the patellar bone.[ncbi.nlm.nih.gov] […] patient with isolated patella aplasia-hypoplasia.[ncbi.nlm.nih.gov] It is well known that patella aplasia-hypoplasia occurs in nail-patella syndrome, small patella syndrome, and several other syndromes.[ncbi.nlm.nih.gov]

  • Thrombocytopenia-Absent Radius Syndrome

    RAPADILINO syndrome (relating to: radial hypoplasia/aplasia, patellar hypoplasia/aplasia, cleft or highly arched palate, diarrhoea, dislocated joints, small stature and other[patient.info] Lower limb anomalies (47%) - knee subluxation, patellar dislocation, femoral or tibial torsion, fibula may be absent.[patient.info]

  • Gorlin Syndrome

    Abstract Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia.[ncbi.nlm.nih.gov] Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia.[ncbi.nlm.nih.gov] Abstract Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature.[ncbi.nlm.nih.gov]

  • Wolcott-Rallison Syndrome

    aplasia NO Bowing of the long bones NO Exercise-induced muscle stiffness NO Diaphyseal dysplasia NO Metaphyseal dysplasia Gastrointestinal Elevated hepatic transaminase delayed[playground.phenotips.org] […] of the capital femoral epiphysis NO Exercise-induced muscle cramps NO Recurrent patellar dislocation NO Short middle phalanx of finger NO Irregular femoral epiphysis NO Patellar[playground.phenotips.org] NO Amelogenesis imperfecta NO Adducted thumb NO Joint laxity NO Calcaneovalgus deformity NO Dense calcifications in the cerebellar dentate nucleus NO Elbow dislocation NO Hypoplasia[playground.phenotips.org]

  • Familial Pterygium of the Conjunctiva

    Thrombocytopenia with Absent Radii • PHYSICAL FINDINGS – Bilateral radial Aplasia or hypoplasia (rarely phocomelia) – Thumbs present (may be hypoplastic)– Thumbs present ([de.slideshare.net] […] may be hypoplastic) – Lower limb malformations 50% (hip dislocation, patellar anomalies, phocomelia) – Other: Facial, Cardiac, GU anomalies • PROGRESSION – Counts improve[de.slideshare.net]

  • Baller-Gerold Syndrome

    Patellar aplasia or hypoplasia can be observed during childhood. Intelligence is usually normal. Patients have a predisposition to cancer, in particular osteosarcoma.[orpha.net] RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet 1989 33 346–351. [ PubMed ] [ Google Scholar ] 30.[ncbi.nlm.nih.gov] […] description Craniosynostosis and radial ray anomalies present at birth and are associated with facial dysmorphism (brachycephaly, ocular exophthalmia, frontal bossing, nasal hypoplasia[orpha.net]

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