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2,906 Possible Causes for No Polydactyly, Onset of Renal Dysfunction in Early Childhood, Skeletal Dysplasia

  • Laurence Moon Syndrome

    […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[icd9data.com] Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] Comments The bodily changes are the result of a dysplasia of two kinds of primitive tissues : (1) The primitive mesenchyme changes which result in the skeletal defects as[ijo.in]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Smith Lemli Opitz Syndrome

    […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[icd9data.com] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] DYSPLASIA SYNDROME middle lobe syndrome Miles-Carpenter syndrome Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome[rgd.mcw.edu]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Short Rib-Polydactyly Syndrome

    SRPS represents a heterogeneous group of lethal skeletal dysplasias.[ncbi.nlm.nih.gov] Short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia.[ncbi.nlm.nih.gov] dysplasia.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Jeune Syndrome

    This case highlights the utility of both TC/AC and RCP/TC in diagnosis of ATD and other skeletal dysplasias associated with a small thorax.[ncbi.nlm.nih.gov] polydactyly syndrome (SRPS), type Majewski.[ncbi.nlm.nih.gov] Jeune syndrome (asphyxiating thoracic dystrophy) is a rare skeletal dysplasia mainly characterized by dystrophy of the thoracic cage.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Asphyxiating Thoracic Dysplasia

    Asphyxiating thoracic dysplasia appears to be one of an increasing number of skeletal dysplasias that can be diagnosed prenatally with ultrasound.[ncbi.nlm.nih.gov] (Saldino-Noonan), short rib-polydactyly syndrome type 2 (Majewski), and the new short rib syndrome reported by Beemer et al [1983].[ncbi.nlm.nih.gov] Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common non-lethal skeletal dysplasia.[patient.info]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Saldino-Noonan Syndrome

    INTRODUCTION: short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia.[lookfordiagnosis.com] […] of Short rib-polydactyly syndrome, Saldino-Noonan type.[checkorphan.org] dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies.[kjp.or.kr]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Wolcott-Rallison Syndrome

    Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk).[orpha.net] Short rib-polydactyly syndrome: more evidence of a continuous spectrum.[link.springer.com] Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org]

  • Ellis-Van Creveld Syndrome

    Several structural fetal defects and genetic syndromes including a range of skeletal dysplasias have been reported in association with increased NT.[ncbi.nlm.nih.gov] Polydactyly is the most frequent skeletal anomaly.[ncbi.nlm.nih.gov] Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Skeletal Dysplasia

    DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[doi.org] )/short-rib polydactyly syndrome type II (Majewski type) AR or digenic ( NEK1/DYNC2H1) Constricted thoracic cage, polydactyly variably present, cleft palate, major organ ([arupconsult.com] polydactyly with skeletal dysplasia usually indicates short rib polydactyly syndrome, chondrodysplasia punctata, or asphyxiating thoracic dysplasia Treatment and prognosis[radiopaedia.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Greenberg Dysplasia

    Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported[ncbi.nlm.nih.gov] Abstract An offspring of consanguineous parents of East-Indian origin was found prenatally to have hydrops fetalis, short limb dwarfism, polydactyly and chondro-osseous changes[ncbi.nlm.nih.gov] Unusual facial features, cystic hygroma, incomplete lung lobation, pulmonary hypoplasia, extramedullary hematopoiesis, intestinal malrotation and polydactyly may occur.[orpha.net]

    Missing: Onset of Renal Dysfunction in Early Childhood

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