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2,438 Possible Causes for Dysmorphic Face, No Polydactyly, Onset of Renal Dysfunction in Early Childhood

  • Patau Syndrome

    Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com]

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

    It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

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

    Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third[ncbi.nlm.nih.gov] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com] Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Pallister-Hall Syndrome

    Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov] Wikidata Jump to navigation Jump to search Human disease Pallister-Hall syndrome (disorder) Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly[wikidata.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Acrocephalopolysyndactyly

    Found on acrocephalopolysyndactyly Congenital malformation in which oxycephaly, brachysyndactyly of hand, and preaxial polydactyly of feet are associated with mental retardation[encyclo.co.uk] The craniofacial features are essentially those of acrocephaly while the finger abnormalities include polydactyly (extra fingers) … Medical dictionary[translate.academic.ru] […] syndrome type II : Carpenter syndrome (most common 1 ) type III : Sakati-Nyhan syndrome type IV : Goodman syndrome See also acrocephalosyndactyly syndromes (when there is no polydactyly[radiopaedia.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Simpson Dysmorphia Syndrome

    We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov] […] hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual[se-atlas.de] Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet are short and broad with dysplatic nails Cutaneous syndactyly Polydactyly[en.wikipedia.org]

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

    )/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] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.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
  • Pallister W Syndrome

    […] or postaxial polydactyly (Biesecker, 2010).[genedx.com] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[findzebra.com] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[en.wikipedia.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Pierre Robin Syndrome

    Involvement of the musculoskeletal system are as follows: Upper Limb: Dysplastic phalanges Polydactyly Clinodactyly Hypersensitive joints Oligodactyly Lower extremities Foot[syndrome.org] Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[emedicine.medscape.com] Abnormalities like syndactyly, dysplastic phalanges, polydactyly, and clinodactyly are seen in many.[symptoma.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Scott Bryant Graham Syndrome

    […] syndrome, Beermer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type[wikidoc.org] In addition, they showed a mildly dysmorphic but apparently characteristic face.[omim.org] […] syndrome Short rib-polydactyly syndrome, Beermer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[en.wikipedia.org]

    Missing: Onset of Renal Dysfunction in Early Childhood

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