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84 Possible Causes for Agenesis of Corpus Callosum, Proximally Placed Thumb, Short Neck

  • Partial Monosomy 18q

    neck.[jisppd.com] 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]

  • Goldberg-Shprintzen Syndrome

    Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] 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]

  • Chromosome 17p13.1 Deletion Syndrome

    Related phenotypes are webbed neck and short neck[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] […] chin Decreased height of chin Short lower third of face [ more ] 0000331 Short foot Short feet Small feet [ more ] 0001773 Short neck Decreased length of neck 0000470 Short[rarediseases.info.nih.gov]

  • Smith Lemli Opitz Syndrome

    neck.[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]

  • Opitz-Kaveggia Syndrome

    It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.[icd10data.com] .: Hereditary partial agenesis of corpus callosum. Arch. Neurol. 11, 198–208 (1964) Google Scholar 6.[doi.org] See Heritability: X-linked recessive inheritance AKA: Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum, Fg Syndrome[monarchinitiative.org]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    […] more Genitourinary External Genitalia Female: absent labia majora small clitoris Skin Nails Hair Nails: absent/hypoplastic nails Head And Neck Neck: short neck torticollis[malacards.org] 22q11 Deletion Syndrome 3MC syndrome Absence of Tibia with Polydactyly acheiropody Acrootoocular Syndrome Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence[rgd.mcw.edu] placed thumb) and is designated as VACTERL, an acronym now used interchangeably with VATER (Khoury et al. 1983).[rrnursingschool.biz]

  • Chromosome 18p Deletion Syndrome

    neck.[kns.cnki.net] […] of corpus callosum), strabismus, ptosis, cleft lip/palate, growth hormone deficiency, recurrent otitis media and hearing loss.[ijcasereportsandimages.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]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    neck SOURCES: ORPHANET UMLS OMIM MONDO DOID More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Medium match SKIN CREASES, CONGENITAL SYMMETRIC[mendelian.co] […] of the corpus callosum.[nature.com] Callosum, Agenesis Of, With Abnormal Genitalia Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardationsyndrome Craniofacial Dysmorphism, Skeletal Anomalies,[familydiagnosis.com]

  • Ring Chromosome 10

    neck Decreased length of neck 0000470 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thin vermilion border Decreased volume of lip Thin lips [ more ][rarediseases.info.nih.gov] Furthermore agenesis of the corpus callosum is reported for the first time in 9p syndrome, 2.Ring chromosome 13 syndrome in an adult male with mild mental retardation ABSTRACT[matsuishi-lab.org] GTG banding manifestations include hypotonia, foot deformation, karyotype in our patient revealed that the 18p11.32 proximally placed thumbs, arthritis/stenotic ear and canals[docksci.com]

  • Congenital Iris Coloboma

    Microcephaly Cephalocele Scoliosis Postaxial hand polydactyly Ptosis Cleft palate Multicystic kidney dysplasia Cerebellar vermis hypoplasia Anteverted nares Intestinal malrotation Short[mendelian.co] MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[bioportal.bioontology.org] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[ojrd.biomedcentral.com]

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