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1,507 Possible Causes for Holoprosencephaly, Multiple Buccal Frenula, 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] buccal frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation[humpath.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]

  • Craniosynostosis Type 3

    buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] 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]

  • Isolated Trigonocephaly

    It was first reported by Opitz, et al. in 1969 and is characterized by trigonocephaly (prominent metopic sutures), multiple buccal frenula, polydactyly, skin laxity, primordial[indianpediatrics.net] holoprosencephaly Cherubism Lobar holoprosencephaly Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus Microform holoprosencephaly Midline interhemispheric[csbg.cnb.csic.es] buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

    Missing: Syndactyly between Adjacent Toes
  • Familial Scaphocephaly Syndrome

    buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] holoprosencephaly Lobar holoprosencephaly Microform holoprosencephaly Midline interhemispheric variant of holoprosencephaly Multiple synostoses syndrome Semilobar holoprosencephaly[csbg.cnb.csic.es] As an isolated abnormality there is no associated neurological deficit, but occasionally the hypotelorism may be associated with holoprosencephaly or other congenital abnormalities[skullbaseinstitute.com]

    Missing: Syndactyly between Adjacent Toes
  • Familial Median Cleft of the Upper and Lower Lips

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[en.wikibooks.org] Familial alobar holoprosencephaly (Arhinencephaly) with median cleft lip and palate. Report of patient with 46 chromosomes. Neurology 1963;13:913-8. 2. Tessier P.[jcasonline.com] The incidence of associated congenital malformations (chromosomal aneuploidy, holoprosencephaly) and of impairment in development is increased in children with cleft defects[clinicalgate.com]

    Missing: Syndactyly between Adjacent Toes
  • X-Linked Mandibulofacial Dysostosis

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8.[humangenetik-regensburg.de] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple[widesmiles2.org]

    Missing: Syndactyly between Adjacent Toes
  • Growth Failure

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] ., cleft palate, septo-optic dysplasia, or holoprosencephaly).[hawaii.edu] […] found were pituitary gland hypoplasia or aplasia, ectopic pituitary gland, septooptic dysplasia, isolated absence of septum pellucidum, stalk abnormalities, empty sella, and holoprosencephaly[academic.oup.com]

    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: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Autosomal Dominant Prognathism

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[en.wikibooks.org] […] on the prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features.[findzebra.com] Non-midline cleft lip Thin toenail Coarse facial features Joint hyperflexibility Thick vermilion border Anophthalmia Unilateral renal agenesis Underdeveloped nasal alae Holoprosencephaly[mendelian.co]

    Missing: Syndactyly between Adjacent Toes
  • Aprosencephaly and Cerebellar Dysgenesis

    […] and a stillborn female infant with a lumbar meningocele, cebocephaly, and alobar holoprosencephaly (4, 5).[ajnr.org] Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly.[link.springer.com] Holoprosencephaly: defects of the mediobasal prosencephalon.[jmg.bmj.com]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes