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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.[] We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity.[] TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases.[]

  • Pseudoachondroplasia

    A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus[] Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses[] 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[]

  • 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[] Small joint hypermobility and short fingers can affect fine motor development and delay self-feeding [ Ireland et al 2012 ].[] ; fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1.[]

  • Hypochondroplasia

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

  • 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[] The term "spondyloperipheral dysplasia" (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as observed in a small number of individuals.[] 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.[]

  • Pseudopseudohypoparathyroidism

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

  • 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[] From Wikidata Jump to navigation Jump to search bone development disease characterized by short fingers and toes nonsyndromic brachydactyly brachydactyly isolated brachydactyly[] Table 1 Types of isolated brachydactyly Name Synonyms OMIM Brachydactyly type A Brachydactyly type A1 (BDA1) Farabee type brachydactyly 112500 Brachydactyly type A2 (BDA2)[]

  • Cartilage Hair Hypoplasia

    The physical examination revealed sparse, fine and brittle hair, shortened limbs, moderate varus bowing of the femurs, and short fingers.[] 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,[] 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.[]

  • Familial Digital Arthropathy - Brachydactyly

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

  • 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[] (D, E) The patient presented with short fingers and toes.[] Systemic abnormalities include short stature, progressive joint stiffness, brachydactyly, thick skin, mild mental retardation, and cardiac anomalies [ 5 , 6 ].[]

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