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675 Possible Causes for Congenital Clubfoot, DiGeorge Syndrome, Hypertelorism, Syndactyly

  • Hypertelorism

    Abstract We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical[ncbi.nlm.nih.gov] Hypertelorism is a symptom in a variety of syndromes, including Edwards Syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and[facecorrection.com] Because hypertelorism is often associated with syndromes like Apert, hypertelorism is often seen in combination with midface dysplasia.[en.wikipedia.org] Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly.[ncbi.nlm.nih.gov]

    Missing: Congenital Clubfoot
  • Pierre Robin Syndrome

    Abstract In reviewing eight cases of children with the Pierre Robin syndrome, we found three cases to have abnormalities of the extremities such as syndactyly, hypoplastic[ncbi.nlm.nih.gov] . • CHARGE Syndrome • Childhood Sleep Apnea • DiGeorge Syndrome (DGS) • Fetal Alcohol Syndrome • Mandibulofacial Dysostosis ( Treacher Collins Syndrome) DIFFERNITIAL DIAGNOSIS[slideshare.net] clubfoot, and short fingers and toes.[molecularcytogenetics.biomedcentral.com] Associated malformations such as hypertelorism and strabismus were more common in infants with Pierre Robin syndrome and also in those with isolated cleft palate combined[ncbi.nlm.nih.gov]

  • Acrocallosal Syndrome

    His left hand displayed a broad thumb and 4/5 syndactyly.[ncbi.nlm.nih.gov] syndrome Diastrophic Dysplasia DiGeorge syndrome (22q11.2 deletion) Distal Arthrogryrosis Donohue syndrome Down syndrome Dubowitz syndrome Dyggve Melchor-Clausen syndrome[de.slideshare.net] , Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly CCF 119800 Genetic Test Registry COACH Syndrome Cerebellar Vermis Hypo/Aplasia, Oligophrenia[ukgtn.nhs.uk] The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and[ncbi.nlm.nih.gov]

  • Scott Bryant Graham Syndrome

    Related phenotypes are finger syndactyly and intellectual disability[malacards.org] […] with unilateral Aerobic actinomyces infection Craniotubular syndrome Urban Schosser Spohn syndrome clubfoot unsegmented bar Hereditary multiple diaphyseal congenital with[yumpu.com] Dysmorphic features included fine hair, synophrys, long eyelashes, hypertelorism, bulbous nasal tip, anteverted ears with hyperconvoluted helix, shallow philtrum, thin lips[omim.org] […] diseases Search Search for a rare disease Craniodigital-intellectual disability syndrome Disease definition Craniodigital syndrome - intellectual deficit is characterised by syndactyly[orpha.net]

    Missing: DiGeorge Syndrome
  • Meckel-Gruber Syndrome

    […] disorder, characterized by posterior encepalocele, cleft palate and lip, polycystic kidneys, hepatic fibrosis with bile duct proliferation, and postaxial polydactyly and syndactyly[jpatholtm.org] ディジョージ ディ・ジョルジ DiGeorge's syndrome ディジョージ症候群 Angelo MariDiGeorge (1921- ) Americanpediatirician Disse ディッセ Disse's space ディッセ腔 Donath-Landsteiner ドナート・ランドシュタイナー ドナート・ランドスタイナー[jams.med.or.jp] Helms, A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a, Reproductive Toxicology, 48, (88), (2014).[doi.org] […] malformations cardiac rotational abnormalities ventriculoseptal defect (VSD) aortic hypoplasia aortic coarctation aortic valvular stenosis Musculoskeletal webbed neck club foot syndactyly[radiopaedia.org]

  • Congenital Metatarsus Varus

    Q70.0 Fused fingers Complex syndactyly of fingers with synostosis Q70.1 Webbed fingers Simple syndactyly of fingers without synostosis Q70.2 Fused toes Complex syndactyly[apps.who.int] syndrome 758.32 22q11 deletion (DiGeorge syndrome, velocardiofacial syndrome) 758.33 Other microdeletions 758.39 Other autosomal deletions 758.4 Balanced autosomal translocation[tdrdata.com] Abstract Congenital metatarsus varus may be regarded as a deformity caused by a dislocation and in that respect is similar to congenital clubfoot and vertical talus but not[ncbi.nlm.nih.gov] Facial abnormalities such as hypertelorism and high-arched palate may be seen and the neck is short. There may be metatarsus adductus.[boneandspine.com]

  • Wolf Hirschhorn Syndrome

    […] mental retardation. microcephaly broad nasal bridge epicanthal folds micrognathia abnormal dermatoglyphics cardiac other neurological renal abnormalities preauricular tags syndactyly[embryology.med.unsw.edu.au] Deletion 22q11.2 (DiGeorge syndrome) DiGeorge syndrome is caused by the interstitial deletion on the long arm of the 22 chromosome.[wikilectures.eu] Children with WHS have learned to walk unassisted; • as approximately 30% of individuals may have congenital heart defects, the heart should be examined.[flipper.diff.org] BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation.[ncbi.nlm.nih.gov]

  • Gorlin Psaume Syndrome

    Clinical: Clefts of jaws and tongue due to abnormalities in development of frenulum; syndactyly; polydactyly; alopecia; white, hamartomatous patches of midline of tongue;[esanatos.com] It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME.[bioportfolio.com] , Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly CCF 119800 Genetic Test Registry COACH Syndrome Cerebellar Vermis Hypo/Aplasia, Oligophrenia[ukgtn.nhs.uk] […] frontal bossing.There is often an increment of the nasion-sella-basion angle (12-16).The most common digital abnormalities are pre-axial polydactyly (usually unilateral), syndactyly[docslide.us]

  • Apert Syndrome

    Surgical correction of syndactyly of the Apert hand should begin by 6 months and be completed by 3 years of age.[ncbi.nlm.nih.gov] ディジョージ DiGeorge's syndrome ディジョージ症候群 Angelo MariDiGeorge (1921- ) Americanpediatirician Disse ディッセ Disse's space ディッセ腔 Donath-Landsteiner ドナート・ランドシュタイナー Donath-Landsteiner[jams.med.or.jp] We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism,[ncbi.nlm.nih.gov] Abstract Apert syndrome is characterized by hypertelorism, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face.[ncbi.nlm.nih.gov]

    Missing: Congenital Clubfoot
  • Cenani Syndactylism

    SYNDROME CENANI-LENZ SYNDACTYLY SYNDROME; CLSS Cenani-Lenz syndactyly Cenani syndactyly Cenani-Lenz syndrome Syndactyly, Type 7 edit English Cenani-Lenz syndactyly syndrome[wikidata.org] , Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly CCF 119800 Genetic Test Registry COACH Syndrome Cerebellar Vermis Hypo/Aplasia, Oligophrenia[ukgtn.nhs.uk] Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose[ncbi.nlm.nih.gov] Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short[orpha.net]

    Missing: DiGeorge Syndrome

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