IllnessBrachydaktylie, Differentialdiagnose

BP4912_DH

illness_ClinicalComment_BP4912

• Allelic: Acrocapitofemoral dysplasia (IHH)
• Allelic: Acromesomelic dysplasia 2A (GDF5)
• Allelic: Acromesomelic dysplasia 2B (GDF5)
• Allelic: Acromesomelic dysplasia 2C, Hunter-Thompson type (GDF5)
• Allelic: Acromesomelic dysplasia 3 (BMPR1B)
• Allelic: Albright hereditary osteodystrophy type 3 [panelapp] (HDAC4)
• Allelic: Albright hereditary osteodystrophy-like syndrome [panelapp] (HDAC4)
• Allelic: Aortic valve disease 1 (NOTCH1)
• Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
• Allelic: Brachyolmia type 3 (TRPV4)
• Allelic: Chromosome 2q37 deletion syndrome (HDAC4)
• Allelic: Cleidocranial dysplasia, forme fruste, dental anomalies only (RUNX2)
• Allelic: HFE hemochromatosis, modifier of (BMP2)
• Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Allelic: Metatropic dysplasia (TRPV4)
• Allelic: Multiple synostoses syndrome 1 (NOG)
• Allelic: Multiple synostoses syndrome 2 (GDF5)
• Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Allelic: Osteoarthritis-5 (GDF5)
• Allelic: Parastremmatic dwarfism (TRPV4)
• Allelic: Robinow syndrome, AR (ROR2)
• Allelic: SED, Maroteaux type (TRPV4)
• Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
• Allelic: Sodium serum level QTL 1 (TRPV4)
• Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• Allelic: Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Allelic: Stapes ankylosis with broad thumbs + toes (NOG)
• Allelic: Symphalangism, proximal, 1A (NOG)
• Allelic: Symphalangism, proximal, 1B (GDF5)
• Allelic: Syndactyly, type V (HOXD13)
• Allelic: Synpolydactyly 1 (HOXD13)
• Allelic: Tarsal-carpal coalition syndrome (NOG)
• Adams-Oliver syndrome 5 (NOTCH1)
• Brachydactyly, type A1 (IHH)
• Brachydactyly, type A1, C (GDF5)
• Brachydactyly, type A1, D (BMPR1B)
• Brachydactyly, type A2 (BMP2)
• Brachydactyly, type A2 (BMPR1B)
• Brachydactyly, type A2 (GDF5)
• Brachydactyly, type B1 (ROR2)
• Brachydactyly, type B2 (NOG)
• Brachydactyly, type C (GDF5)
• Brachydactyly, type D (HOXD13)
• Brachydactyly, type E (HOXD13)
• Brachydactyly, type E2 (PTHLH)
• Brachydactyly-intellectual disability (HDAC4)
• Brachydactyly-syndactyly syndrome (HOXD13)
• Cleidocranial dysplasia (RUNX2)
• Cleidocranial dysplasia, forme fruste, with brachydactyly (RUNX2)
• Clubfoot, congenital, +/- deficiency of long bones +/or mirror-image polydactyly (PITX1)
• Cutis laxa, AR, type IIE (LTBP1)
• Digital arthropathy-brachydactyly, familial (TRPV4)
• Farber lipogranulomatosis (ASAH1)
• Hypertension + brachydactyly syndrome (PDE3A)
• Hypophosphatemic rickets, AR (DMP1)
• Liebenberg syndrome (PITX1)
• Metaphyseal dysplasia with maxillary hypoplasia with/-out brachydactyly (RUNX2)
• Short stature, brachydactyly, intellectual developmental disability + seizures (PRMT7)
• Short stature, facial dysmorphism, skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
• Temtamy preaxial brachydactyly syndrome (CHSY1)