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294 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Single Transverse Palmar Crease

  • Wolf-Hirschhorn Syndrome

    [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] […] of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects.[ncbi.nlm.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

    transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability.[ncbi.nlm.nih.gov] MRI scan showed partial agenesis of the corpus callosum and a frontal midline mass, thought to be a lipoma (Supplementary Fig. 1).[docksci.com]

  • Postaxial Oligodactyly, Tetramelic

    transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] Allergies - environmental, food, medication: NKDA Clinical symptoms and physical findings Growth parameters Weight for age Decreased body weight ( Failure to thrive Failure[playground.phenotips.org] […] of Corpus Callosum with Facial Anomalies and Robin Sequence Arachnodactyly Arms, Malformation of Atelosteogenesis Type 3 autosomal recessive Robinow syndrome B-Cell Immunodeficiency[crrd.mcw.edu]

  • Coffin-Lowry Syndrome

    transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] Other findings can include failure to thrive, feeding difficulties, short stature, ophthalmologic abnormalities, microcephaly and hearing loss.[dnatesting.uchicago.edu] Abstract We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis.[ncbi.nlm.nih.gov]

  • Schinzel-Giedion Syndrome

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ][rarediseases.info.nih.gov] […] to thrive.[checkorphan.org] Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] A 7-month-old infant with failure to thrive and malnutrition developed a corneal ulcer. Fortified antibiotic eye drops were administered without improvement.[ncbi.nlm.nih.gov] CT/MRI agenesis of the corpus callosum MANAGEMENT: 1. Classic Zellweger syndrome 1.[pedbase.org]

  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[rarediseases.info.nih.gov] […] to thrive And another 116 symptoms.[mendelian.co] 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]

  • Miller Dieker Syndrome

    Poor feeding leads to a failure to thrive and increases the risk of pneumonia because the infants can accidentally inhale baby formula into their lungs.[checkorphan.org] The proband was determined at birth owing to the presence of multiple congenital anomalies, including low birth weight, microcephaly, agenesis of the corpus callosum, lissencephaly[ncbi.nlm.nih.gov] Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen. Death usually occurs in infancy and childhood.[en.wikipedia.org]

  • Aarskog-Scott Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] […] of the Corpus Callosum Aicardi-Goutieres Syndrome Alagille Syndrome Alpha-Antitrypsin Alpha-Thalassemia Alpha-Thalassemia/Mental Retardation Syndrome Alport Syndrome Alstrom[hfi-ivf.com] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net]

  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] […] of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon.[hon.ch] […] to thrive.[whonamedit.com]

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