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21 Possible Causes for Ear Deformity, Mental Retardation, Wide Space Between the First and Second Toe

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

  • Seckel Syndrome

    ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com]

  • Dubowitz Syndrome

    In addition, the eyes may be small and wide set, and the affected individual may have low-set ears.[wisegeek.net] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[wikidata.org]

  • Ring Chromosome 10

    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] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth[rarediseases.info.nih.gov]

  • Cutis Laxa

    The face had a senile appearance with pendulous ear lobes and lax skin (Figure 1). His thorax is deformed with scoliosis.[panafrican-med-journal.com] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] While the patients with GORAB mutations have severe osteopenia, the patients with PYCR1 mutations have severe mental retardation.[ncbi.nlm.nih.gov]

  • Atelosteogenesis Type 2

    Associated malformations include urinary tract duplication, hydronephrosis, cleft palate, ear deformities, corneal clouding and blue sclera, anal atresia and aplastic testis[fetalultrasound.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies KBGS 148050 Genetic Test Registry Kniest Dysplasia 156550 Genetic Test Registry Larsen Syndrome[ukgtn.nhs.uk]

  • Craniofrontonasal Dysplasia

    Patients also had cleft lip-cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry frizzy hair (100 percent), syndactyly (14 percent[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] retardation.[link.springer.com]

  • Genee-Wiedemann Syndrome

    Ear/abnormalities Radius/abnormalities Vertebrates/abnormalities.[reference.md] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] Miller An extremely rare genetic mental retardation-multiple congenital anomalies syndrome.[whonamedit.com]

  • Trisomy 10p

    […] syndrome - prominent ears Tetramelic deficiencies -- Ectodermal dysplasia -- deformed ears -- other abnormalities - prominent ears Thompson-Baraitser syndrome - prominent[dumboearsinlouisiana.weebly.com] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age.[ncbi.nlm.nih.gov]

  • Seckel Syndrome Type 2

    Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Abnormally large globe Increased size of eyes Large eyes [ more ] 0001090 Autosomal recessive[rarediseases.info.nih.gov] […] with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia, Diabetes mellitus, mental retardation[centogene.com] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?[rarediseases.org]

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