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2,142 Possible Causes for Cleft Palate, Microcephaly

  • Meckel-Gruber Syndrome

    Abstract The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS[ncbi.nlm.nih.gov] Abstract Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality[ncbi.nlm.nih.gov] Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography[ncbi.nlm.nih.gov]

  • Velocardiofacial Syndrome

    Learning disabilities occur often; short stature, slender hyperextensible hands and digits, scoliosis, mental retardation, inguinal hernia, auricular abnormalities, and microcephaly[medical-dictionary.thefreedictionary.com] PARTICIPANTS: Eight children with VCFS and five children with nonsyndromic cleft palate or VPD.[ncbi.nlm.nih.gov] Less frequent features include short stature, small-than-normal head ( microcephaly ), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia[medicinenet.com]

  • CHARGE Syndrome

    Abstract Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.[ncbi.nlm.nih.gov] […] syndrome 759.89 Cerebrohepatorenal syndrome 759.89 CGF (congenital generalized fibromatosis) 759.89 CHARGE association (syndrome) 759.89 Cockayne's disease or syndrome (microcephaly[icd9data.com] Lip /- Cleft Palate Cleft lip with or without cleft palate, cleft palate, submucous cleft palate Image of Repaired Cleft Lip 20% TE Fistula Esophageal atresia, Trancheo-esophageal[chargesyndrome.org]

  • Otitis Media

    Cleft Palate – Serous otitis media is more common in the child with a cleft palate.[netwellness.org] Those with craniofacial malformations such as cleft lip and palate, Down syndrome, and microcephaly are at higher risk.[en.wikipedia.org] Further, patients with craniofacial abnormalities (eg, Down syndrome, cri du chat syndrome, cleft lip and/or cleft palate, velocardiofacial syndrome [Shprintzen syndrome])[msdmanuals.com]

  • Patau Syndrome

    It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com] […] lip, and cleft palate.[learningaboutelectronics.com] head ( microcephaly ) Undescended testes Babies born with trisomy 13 can have many health problems, and more than 80% don’t survive more than a few weeks.[webmd.com]

  • Renpenning Syndrome 1

    Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities.[malacards.org] In addition, we identified another family exhibiting microcephaly and MR ( fig. 1 B ).[ncbi.nlm.nih.gov] Additional features may include heart defects, muscular atrophy, cleft palate , and eye abnormalities. [1] [2] Renpenning syndrome is caused by mutations in the PQBP1 gene[rarediseases.info.nih.gov]

  • Mandibulofacial Dysostosis

    palate.[ncbi.nlm.nih.gov] We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures.[ncbi.nlm.nih.gov] palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss.[ncbi.nlm.nih.gov]

  • Oculo-Palato-Cerebral Syndrome

    Related phenotypes are cleft palate and microcephaly[malacards.org] Microcephaly, decreased muscle tone, in- complete Moro reflex, and a midline cleft palate were noted.[myslide.es] Abstract Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities,[ncbi.nlm.nih.gov]

  • Partial Trisomy 13 in Patau Syndrome

    Surgery is conducted for treating physical defects such as cleft lip and cleft palate. Occupational and speech therapy helps in full developmental potential.[nace.igenomix.co.in] Cranium: Microcephaly (small head) holoprosencephaly- the most common cranial anomaly diagnosed (single forebrain development- did not separate into two sides) wide sagittal[documentingreality.com] Surgery may be necessary to repair heart defects or cleft lip and cleft palate.[intelligentdental.com]

  • Dubowitz Syndrome

    MICROCEPHALY Infants born with Dubowitz syndrome have primary microcephaly, or a small head size at birth.[encyclopedia.com] He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency.[ncbi.nlm.nih.gov] Overt cleft palate or submucous cleft palate is not a prevalent finding (16%). High-pitched and hoarse voice quality appears to be a constant feature.[ncbi.nlm.nih.gov]

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