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2,995 Possible Causes for Cleft Lip, Holoprosencephaly, Syndactyly between Adjacent Toes

  • Patau Syndrome

    Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[] 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[] The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in[]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[] , acute and chronic sequellae of facial fractures, cleft lip and palate, micrognathia, Treacher Collins Syndrome, Apert's Syndrome, Crouzon's Syndrome, hemifacial microsomia[] lip/cleft palate and other lip and palatal anomalies, bifid uvula, choanal atresia, macrotia with lateral facial cleft, craniosynostosis, frontal bossing, frontal encephalocele[]

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[] lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory system anomalies laryngeal[]

  • Alobar Holoprosencephaly

    Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.[] Abstract We report on a fetus with alobar holoprosencephaly, complete cleft lip and palate, urorectal septum malformation sequence and perineal hernia.[] The additional scanning done was to look at bubbas face in 3D and they believe there are signs of a cleft lip and palate.[]

    Missing: Syndactyly between Adjacent Toes
  • Partial Trisomy 13 in Patau Syndrome

    Key Words: Autopsy ; Trisomy ; Holoprosencephaly ; Karyotyping[] Snapshot A baby boy is born with microph thalmia, microcephaly, cleft lip and palate, polydactyly, low-set ears, and "punched out" scalp lesions.[] Pseudotrisomy 13 syndrome, or holoprosencephaly-polydactyly syndrome, is an autosomal recessive condition with characteristics similar to trisomy 13, including holoprosencephaly[]

    Missing: Syndactyly between Adjacent Toes
  • Aprosencephaly and Cerebellar Dysgenesis

    […] and a stillborn female infant with a lumbar meningocele, cebocephaly, and alobar holoprosencephaly (4, 5).[] […] and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, and a V-shaped or widow[] Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly.[]

    Missing: Syndactyly between Adjacent Toes
  • Frontonasal Dysplasia

    Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[] This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum[] The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate[]

    Missing: Syndactyly between Adjacent Toes
  • Chromosome 18p Deletion Syndrome

    We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32–p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly[] Cleft lip with or without cleft palate (CL/CP) differs from an isolated cleft palate (CP) on embryonic, epidemiologic, and genetic levels.[] MalaCards based summary : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to 18p deletion syndrome and alobar holoprosencephaly.[]

    Missing: Syndactyly between Adjacent Toes
  • Familial Porencephaly

    holoprosencephaly  Semilobar holoprosencephaly  Lobar holoprosencephaly 20.  Alobar holoprosencephaly: there is a complete absence of midline forebrain division, resulting[] Alobar holoprosencephaly (thalami fused and no falx present) Familial hydranencephaly (AR). Trisomy 13. Fowler syndrome. Volpe JJ.[] Interestingly, this patient showed an open lipped cleft with heterotopia in the left hemisphere and a close lipped cleft in the right hemisphere.[]

    Missing: Syndactyly between Adjacent Toes
  • Dandy-Walker Syndrome

    Although magnetic resonance imaging revealed severe hydrocephalus and lobar holoprosencephaly, the patient had no symptoms of increased intracranial pressure and no craniofacial[] A boy was born with Dandy-Walker syndrome associated with a giant occipital meningocele, cleft lip, and cleft palate.[] .  Dandy-Walker continuum  Holoprosencephaly  Chiari II malformation 3.[]

    Missing: Syndactyly between Adjacent Toes

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