Create issue ticket

86 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Proximally Placed Thumb

  • Smith Lemli Opitz Syndrome

    Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov] […] 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]

  • Mowat-Wilson Syndrome

    Symptons may include: Growth and Motor development delay : speech can be delayed or absent; Seizures in the majority of individuals ( Epilepsy ); Failure to thrive in early[specialeducationalneeds.co.uk] […] 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]

  • Partial Monosomy 18q

    Chromosome 16q deletion syndrome is mainly characterized by developmental delay, craniofacial anomalies, hypotonia, failure to thrive, feeding difficulties, mental retardation[tmj.ro] 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]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high[rarediseases.info.nih.gov] Other features are agenesis of corpus callosum (20%), congenital heart diseases (10%), sensory neural deafness, spontaneous life threatening bleeding and hypothyroidism [[casereports.in] placed thumbs, and cryptorchidism; all, except cryptorchidism, have been noted previously. 2 5 7 8 Table 3 Features in patients from the current series and those reported[adc.bmj.com]

  • Chromosome 17p13.1 Deletion Syndrome

    […] to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.Visit the Orphanet disease page for more resources.[malacards.org] Syndrome (aka: Agenesis of Corpus Callosum and Chorioretinal Abnormality; Agenesis of Corpus Callosum With Chorioretinitis Abnormality; Agenesis of Corpus Callosum With Infantile[docs.google.com] […] to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.[rarediseases.info.nih.gov]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net] There was associated partial agenesis of the corpus callosum.[iamg.in] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Syndromic Microphthalmia Type 10

    It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com] […] of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.[malacards.org] placed thumbs, short distal phalanges - - - 1B (sister of 1A) 16q11.1q12.1 550 band karyotype ND Proximally placed thumbs, short distal phalanges - - 2 16q11.2q21 CGH/FISH[bmcmedgenet.biomedcentral.com]

  • Dubowitz Syndrome

    Failure to Thrive : growth failure, or failure to thrive (FTT), is a descriptive term and not a specific diagnosis.[ric.edu] 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]

  • Gorlin-Chaudhry-Moss Syndrome

    […] 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] Otopalatodigital syndrome type I (OPD1): Digital anomalies including short, often proximally placed thumbs with hypoplasia of the distal phalanges.[vivavoceoralmedicineradiology.com]

  • Psychomotor Retardation

    Abstract A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred[ncbi.nlm.nih.gov] Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.[hereditasjournal.biomedcentral.com] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

Similar symptoms