Create issue ticket

440 Possible Causes for Micromelia

Show results in: Română

  • Saldino-Noonan Syndrome

    Besides the characteristic narrow thorax, the pronounced micromelia and a severe dysplasia of the skeleton, a series of organic malformations have been found, in particular[ncbi.nlm.nih.gov] Affected patients also have extreme micromelia, pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones).[orpha.net]

  • Achondrogenesis

    Abstract Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios.[ncbi.nlm.nih.gov] Abstract Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia.[ncbi.nlm.nih.gov] Abstract Achondrogenesis is a lethal form of congenital chondrodystophy characterised by extreme micromelia.[ncbi.nlm.nih.gov]

  • Short Rib-Polydactyly Syndrome Type Majewski

    Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia[ingentaconnect.com] The pregnancy was terminated, and a fetus was delivered with facial dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly[mdanderson.influuent.utsystem.edu]

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

    CONCLUSION: Polydactyly, micromelia, metaphyseal spurs, widened humeral metaphyses, and shortened ribs can be prominent prenatal ultrasound findings of SRPS III.[ncbi.nlm.nih.gov] […] atresia ; Facial cleft ; Frontal bossing ; Hydronephrosis ; Hydrops fetalis ; Hypoplasia of penis ; Lethal skeletal dysplasia ; Long philtrum ; Macrocephaly ; Micrognathia ; Micromelia[mousephenotype.org] Karger AG, Basel References Saldino RM, Noonan CD: Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine and multiple visceral[karger.com]

  • Metaphyseal Acroscyphodysplasia

    The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly.[ncbi.nlm.nih.gov] We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating[pure.unipa.it] […] characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia[malacards.org]

  • Achondrogenesis, Type 1A

    Affected infants had a short trunk, extreme micromelia, and a disproportionately large cranium.[mhmedical.com] […] wedged-shape femur with proximal metaphyseal spike short broad tibia short radius unossified hands unossified feet micromelia absence of ossification of vertebral bodies,[humpath.com] In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.[malacards.org]

  • Short Rib-Polydactyly Syndrome

    It is characterized by the triad of micromelia, polydactyly and short horizontal ribs with or without visceral involvement.[ncbi.nlm.nih.gov] The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly.[ncbi.nlm.nih.gov] […] report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia[ncbi.nlm.nih.gov]

  • Achondrogenesis Type 2

    Affected infants had a short trunk, extreme micromelia, and a disproportionately large cranium.[mhmedical.com] Abstract Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia.[ncbi.nlm.nih.gov] Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal[ncbi.nlm.nih.gov]

  • Dyssegmental Dysplasia Type Silverman-Handmaker

    METHODS: We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis[ncbi.nlm.nih.gov] (a) Theupper extremity demonstrates severe micromelia with jointcontracture at the elbow (arrow).[docslide.com.br] دیسپلازی AbstractDyssegmental، سیلورمن-Handmaker نوع (DDSH)، یک نوع اتوزوم مغلوب کشنده کوتولگی با micromelia anisospondylic مشخصه است.[scipers.com]

  • Thanatophoric Dysplasia Type 1

    TD is a lethal skeletal dysplasia classified as TD type 1 with micromelia, bowed femurs, with or without cloverleaf skull and TD type 2 with straight femurs and cloverleaf[ashg.org] Disease definition Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.[orpha.net] Background information for Thanatophoric Dysplasia, Types I and II ( FGFR3 ) 13 Mutations Characteristics: Micromelia, macrocephaly, short ribs and a narrow thorax; TD I has[ltd.aruplab.com]

Further symptoms

Similar symptoms