Create issue ticket

78 Possible Causes for Agenesis of Corpus Callosum, Proximally Placed Thumb, Sparse Hair

  • Goldberg-Shprintzen Syndrome

    hair), cleft palate and iris coloboma.[humpath.com] Since agenesis of the corpus callosum is the only MWS feature that can be detected prenatally, molecular screening of the ZEB2 gene in prenatal isolated agenesis of the corpus[ojrd.biomedcentral.com] placed thumbs, phalangeal hypotubulation and sclerosis, hip subluxation, femur fracture, genu recurvatum, talipes equinovarus, metatarsus adductus, congenital bowing of the[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies.[icd10data.com] […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] placed thumbs.[orpha.net]

  • Renpenning Syndrome

    […] of the corpus callosum, lacunar chorioretinopathy, costovertebral anomalies, seizures in females _____, Xp22 Allan–Herndon syndrome Generalized muscle hypoplasia, childhood[pediatrics.aappublications.org] hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal[mousephenotype.org] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Dubowitz Syndrome

    An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial[ncbi.nlm.nih.gov] Corpus Callosum 9 terms Aphalangia 26 terms Heart 28 terms seizures THIS SET IS OFTEN IN FOLDERS WITH... 23 terms Cataracts 8 terms Syndromes with Coloboma 25 terms Syndromes[quizlet.com] Hand size was 50th percentile for 4 years with brachycUnodactyly and proximally placed thumbs. Generalized limitation of joint mobility was present.[healio.com]

  • Mowat-Wilson Syndrome

    In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] of the corpus callosum.[symptoma.com] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003, Adam[ncbi.nlm.nih.gov]

  • Opitz-Kaveggia Syndrome

    There were, however, some dysmorphic facial features such as sparse, thin, and fragile hair with an abnormal pigmentation starting high in the frontal area.[kundoc.com] .: Hereditary partial agenesis of corpus callosum. Arch. Neurol. 11, 198–208 (1964) Google Scholar 6.[doi.org] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Gorlin-Chaudhry-Moss Syndrome

    […] pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis.[malacards.org] CT scan identified agenesis of the corpus callosum. At age 21 she had moderate mental retardation and spoke in short phrases with unclear speech.[nature.com] Otopalatodigital syndrome type I (OPD1): Digital anomalies including short, often proximally placed thumbs with hypoplasia of the distal phalanges.[vivavoceoralmedicineradiology.com]

  • Partial Monosomy 18q

    Mental retardation, ectopia lentis, sparse blond hair, genu valgum, failure to thrive, thromboembolic episodes, fatty changes of liver.[kumc.edu] Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[ojrd.biomedcentral.com] placed thumbs 33 Chorea 3 Nystagmus 30 Gap between 1st & 2nd toe 3 Palate abnormality 30 Low posterior hairline 3 Cleft 12 Scoliosis 3 High arched 15 Strawberry birthmark[labmed.hallym.ac.kr]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    […] of corpus callosum X-linked recessive inheritance Cerebellar hypoplasia Cervical instability Congenital onset Respiratory distress Microphthalmia Nail dystrophy Pulmonary[mendelian.co] hair, eyelashes, and, or eyebrows, small stature and predisposition to skin cancer and osteosarcoma are some key features of this syndrome. {2,3} Other features in individual[pediatriconcall.com] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • BOD Syndrome

    […] of corpus callosum Hyperinsulinemia Upper airway obstruction Osteopenia Kyphoscoliosis Dicarboxylic aciduria Increased body weight Irregular dentition Short sternum Abnormality[mendelian.co] Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia.[ncbi.nlm.nih.gov] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

Similar symptoms