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1,558 Possible Causes for Holoprosencephaly, Minor Ear Anomalies, Syndactyly between Adjacent Toes

  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[aafp.org] Hematologic disorders Congenital hemolytic icterus Polycythemia vera Sickle cell anemia Thalassemia Iatrogenic disorders Hydrocephalus with shunt Malformations Encephalocele Holoprosencephaly[cincinnatichildrens.org]

  • 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[brighthub.com] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[atlasgeneticsoncology.org] In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly.[ncbi.nlm.nih.gov]

    Missing: Minor Ear Anomalies
  • Anotia

    Microtia Microtia is an anomaly in which the pinna, or external ear, is deformed in some way.[pediatricentassociates.com] […] each about 30% of infants with associated malformations), followed by anophthalmia or microphthalmia (14%), limb reduction defects or severe renal malformations (11%), and holoprosencephaly[ncbi.nlm.nih.gov] Among the MMI only holoprosencephaly was preferentially associated with M-A (four cases observed upsilon 0.7 expected, p 0.005).[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Micrognathism

    […] physical anomalies "'( "'MPA "'s ) are relatively minor ( typically painless and, in themselves, harmless ) congenital physical abnormalities consisting of features such[eng.ichacha.net] 447637006 6011000124106 MAPADVICE IF CEREBRO-COSTO-MANDIBULAR SYNDROME CHOOSE Q04.9 MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106 MAPRULE IFA 722283003 Agnathia, holoprosencephaly[purl.bioontology.org] Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-seated[diki.pl]

    Missing: Syndactyly between Adjacent Toes
  • Ectrodactyly

    Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and[orpha.net] Magnetic resonance imaging of the brain revealed lobar holoprosencephaly. His G-banded karyotype was normal.[ncbi.nlm.nih.gov] No known genes for holoprosencephaly or ectrodactyly were found, including GLI2. The cause of Hartsfield syndrome is unknown.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Hypomandibular Faciocranial Dysostosis

    (34%), ear anomalies (91%), and/or deafness (62%).[scinapse.io] Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Synotia Muscular hypotonia Macrocephaly Pectus carinatum Full cheeks Acetabular dysplasia Femoral[mendelian.co] 447637006 6011000124106 MAPADVICE IF CEREBRO-COSTO-MANDIBULAR SYNDROME CHOOSE Q04.9 MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106 MAPRULE IFA 722283003 Agnathia, holoprosencephaly[bioportal.bioontology.org]

    Missing: Syndactyly between Adjacent Toes
  • Hypertelorism

    , and minor skeletal anomalies [18] .[wikigenes.org] He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata.[ncbi.nlm.nih.gov] We describe a male patient with holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Patau Syndrome

    Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[revistas.usp.br] Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and[ncbi.nlm.nih.gov] Holoprosencephaly (resulting from a defect in the division of the brain into two hemispheres) is present in 70% of cases and can be observed as variable degrees of hemisphere[orpha.net]

    Missing: Minor Ear Anomalies Syndactyly between Adjacent Toes
  • Aqueduct of Sylvius Anomaly

    […] of the eye, eyelid or lacrimal apparatus, unspecified Structural developmental anomalies of the ear LA40 Structural anomaly of eustachian apparatus LA41 Minor anomalies of[embryology.med.unsw.edu.au] Mild Holoprosencephaly: Almost full division of ventricles What is always missing in Lobar Holoprosencephaly?[quizlet.com] Holoprosencephaly is one of the most severe disorders of ventral induction; it features incomplete separation of the cerebral hemispheres and has a very severe prognosis in[obgyn.mhmedical.com]

    Missing: Syndactyly between Adjacent Toes
  • Acrootoocular Syndrome

    They also do not have the ear anomalies seen in CHARGE syndrome. Cleft palate in the absence of cleft lip is more common.[entokey.com] Holoprosencephaly ranges from severe alobar holoprosencephaly with cyclopia to ethmocephaly, cebocephaly, premaxillary agenesis, and various microforms.[radiologykey.com] Hemorrhage-lntraventricular Grade III, IV Hereditary Sensory & Autonomic Neuropathy Hereditary Sensory Motor Neuropathy (Charcot Marie Tooth Disease) Herrmann syndrome Heterotopias Holoprosencephaly[de.slideshare.net]

    Missing: Syndactyly between Adjacent Toes