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1,761 Possible Causes for Brachydactyly

  • Pseudohypoparathyroidism

    Familial brachydactyly . Brit. J. Radiol. , 18 : 167 . Brailsford , J. F. ( 1946 ). Familial brachydactyly with associated bilateral coxitis . Brit. J.[cambridge.org] We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity.[ncbi.nlm.nih.gov] TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases.[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus[ncbi.nlm.nih.gov] Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses[ncbi.nlm.nih.gov] A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly[uniprot.org]

  • Achondroplasia

    […] displacement of the midface and depressed nasal bridge Shortening of the arms with redundant skin folds on limbs Limitation of elbow extension Shortened fingers and toes (brachydactyly[rarediseases.org] Small joint hypermobility and short fingers can affect fine motor development and delay self-feeding [ Ireland et al 2012 ].[ncbi.nlm.nih.gov] ; fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1.[slideshare.net]

  • Hypochondroplasia

    The following are characteristics consistent with this condition: Brachydactyly Short stature Micromelia Skeletal dysplasia Abnormality of femur Hypochondroplasia is transmitted[en.wikipedia.org] After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly.[ncbi.nlm.nih.gov] Numerous features can accompany short stature - macrocephaly, a prominent forehead, brachydactyly involving both the hands and the feet, lumbar lordosis, and a limited range[symptoma.com]

  • Spondyloperipheral Dysplasia

    […] mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly[ncbi.nlm.nih.gov] The term "spondyloperipheral dysplasia" (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as observed in a small number of individuals.[ncbi.nlm.nih.gov] The diagnosis of SPD is suggested by the appearance of brachydactyly in a child who has clinical and radiographic features of a collagen II disorder.[ncbi.nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    Familial brachydactyly . Brit. J. Radiol. , 18 : 167 . Brailsford , J. F. ( 1946 ). Familial brachydactyly with associated bilateral coxitis . Brit. J.[journals.cambridge.org] Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like[degruyter.com] Inherited brachydactyly and hypoplasia of the bones of the extremities . Ann. Hum. Genet. , 26 : 201 . Hefke , H. W. 1940 ).[journals.cambridge.org]

  • Brachydactyly

    Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized[ncbi.nlm.nih.gov] From Wikidata Jump to navigation Jump to search bone development disease characterized by short fingers and toes nonsyndromic brachydactyly brachydactyly isolated brachydactyly[wikidata.org] Table 1 Types of isolated brachydactyly Name Synonyms OMIM Brachydactyly type A Brachydactyly type A1 (BDA1) Farabee type brachydactyly 112500 Brachydactyly type A2 (BDA2)[ncbi.nlm.nih.gov]

  • Cartilage Hair Hypoplasia

    The physical examination revealed sparse, fine and brittle hair, shortened limbs, moderate varus bowing of the femurs, and short fingers.[analesdepediatria.org] fingers and toes Bowed femora and tibiae (present in 77%) Laxity of ligaments with hypermobility of joints (in 87%) Limited extension of the elbows (83%) Lumbar lordosis,[ncbi.nlm.nih.gov] Physical examination showed a height of 62 cm ( 9.6 SD), weight of 8620 g ( 3.34 SD), shortening of upper and lower extremities, thick hands and short fingers.[analesdepediatria.org]

  • Familial Digital Arthropathy - Brachydactyly

    We have designated the condition familial digital arthropathy‐brachydactyly (FDAB).[scipers.com] Affiliated tissues include bone, and related phenotypes are brachydactyly and short distal phalanx of finger UniProtKB/Swiss-Prot : 76 Digital arthropathy-brachydactyly, familial[malacards.org] We have designated the condition familial digital arthropathy-brachydactyly (FDAB).[ncbi.nlm.nih.gov]

  • Marchesani-Weill Syndrome

    Weill-Mar·che·sa·ni syn·drome ( vīl mahr-kā-sah'ne ), [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive[medical-dictionary.thefreedictionary.com] (D, E) The patient presented with short fingers and toes.[bmcophthalmol.biomedcentral.com] Systemic abnormalities include short stature, progressive joint stiffness, brachydactyly, thick skin, mild mental retardation, and cardiac anomalies [ 5 , 6 ].[bmcophthalmol.biomedcentral.com]

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