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1,571 Possible Causes for Holoprosencephaly, Low Anterior Hairline, Syndactyly between Adjacent Toes

  • Craniosynostosis Type 3

    Characteristic features include coronal synostosis (usually unilateral) with restriction in growth of the anterior cranial base, a low set frontal hairline and facial asymmetry[cincinnatichildrens.org] 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]

  • Ring Chromosome 7

    anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Malar flattening Zygomatic flattening 0000272 Microcephaly Abnormally small skull Decreased[rarediseases.info.nih.gov] […] high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly[ncbi.nlm.nih.gov] Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres.[cyberleninka.org]

    Missing: Syndactyly between Adjacent Toes
  • 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: Low Anterior Hairline
  • Frontonasal Dysplasia

    Among the abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline[ncbi.nlm.nih.gov] Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[medsci.org] Hair In our population, 65% ( n 15) of all patients had a widow’s peak, and 26% ( n 6) had a low anterior hairline.[nature.com]

    Missing: Syndactyly between Adjacent Toes
  • Hypertrichotic Osteochondrodysplasia

    anterior hairline Low posterior hairline Macrocephaly Prominent forehead ... ...[familydiagnosis.com] HOLOPROSENCEPHALY 1, INCLUDED; HPE1, INCLUDED Gene map locus 21q22.3, 2q37.1-q37.3 16: *600576 GeneTests, Links GATA-BINDING PROTEIN 4; GATA4 Gene map locus 8p23.1-p22 17[fetal.com] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low posterior hairline Low hairline at back of neck 0002162 Thick eyebrow Bushy eyebrows[rarediseases.info.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Gorlin-Chaudhry-Moss Syndrome

    anterior hairline ; Low posterior hairline ; Low-set ears ; Mandibular prognathia ; Microcephaly ; Microdontia ; Micrognathia ; Micropenis ; Microphthalmia ; Midface retrusion[mousephenotype.org] , Neonatal Hepatorenal Syndrome Hermansky Pudlak Syndrome Hermaphroditism, True Hers Disease Hidradenitis Suppurativa Hirschsprung's Disease Histidinemia Histiocytosis X Holoprosencephaly[medschool.umaryland.edu] […] fontanel Commonly - More than 50% cases Generalized hirsutism Not very common - Between 30% and 50% cases Low anterior hairline Commonly - More than 50% cases Hypertrichosis[mendelian.co]

    Missing: Syndactyly between Adjacent Toes
  • Isolated Trigonocephaly

    Characteristic features include coronal synostosis (usually unilateral) with restriction in growth of the anterior cranial base, a low set frontal hairline and facial asymmetry[cincinnatichildrens.org] holoprosencephaly Cherubism Lobar holoprosencephaly Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus Microform holoprosencephaly Midline interhemispheric[csbg.cnb.csic.es] Median cleft lip, which accounts for about 0.5% of all cases of cleft lip, is usually associated with holoprosencephaly or the oral-facial-digital syndrome.[sonoworld.com]

    Missing: Syndactyly between Adjacent Toes
  • Hypomandibular Faciocranial Dysostosis

    anterior hairline Generalized hirsutism Short thorax Sclerocornea Underdeveloped supraorbital ridges Abnormal eyelid morphology Wide anterior fontanel Clitoral hypertrophy[mendelian.co] anterior hairline Short upper lip Limited elbow extension Abnormality of the tonsils Muscular hypotonia of the trunk Narrow mouth Vomiting Hypospadias Happy demeanor Arthritis[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
  • Dubowitz Syndrome

    anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower[rarediseases.info.nih.gov] […] white matter spongiosis Wilms' tumor Retinal vasculopathy with cerebral leukodystrophy Chediak-Higashi syndrome Cockayne syndrome type II Sickle cell - hemoglobin D disease Holoprosencephaly[checkrare.com] anterior hairline Low-set, posteriorly rotated ears Micrognathia Narrow face Postnatal growth retardation Protruding ear Ptosis Recurrent infections Respiratory insufficiency[dovemed.com]

    Missing: Syndactyly between Adjacent Toes
  • Smith Lemli Opitz Syndrome

    He was a white male with an eunuchoid appearance, central obesity, a full head of graying hair, low anterior/posterior hairlines, and a clockwise hair whorl at the vertex.[journals.plos.org] The diagnosis of alobar holoprosencephaly was confirmed at 15 weeks of gestation, and cardiac and limb defects were also identified.[ncbi.nlm.nih.gov] Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia).[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes