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22 Possible Causes for Dysmorphic Face, Skeletal Dysplasia, Wide Space Between the First and Second Toe

  • Down Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

  • Seckel Syndrome

    Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([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] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • Russell-Silver Syndrome

    A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations. Clin Genet. 1986 Jan; 29 (1):83–87. [ PubMed ] [ Google Scholar ] Adeyokunnu AA.[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] […] and further dysmorphisms.[ncbi.nlm.nih.gov]

  • Atelosteogenesis Type 2

    Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.[thehealthscience.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] , and mental retardation, see genitopatellar syndrome absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO[mygenomics.com]

  • Greenberg Dysplasia

    Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported[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] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

  • Atelosteogenesis

    This could be a unique skeletal dysplasia or the most severe end of the atelosteogenesis spectrum.[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] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”? .[nature.com]

  • Dubowitz Syndrome

    22q11.2 deletion syndrome Thanatophoric dysplasia type 2 Familial partial lipodystrophy Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia[checkrare.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] Developmental Delay : behind schedule in reaching milestones of early childhood development Dysmorphic Face : this refers to minor facial anomalies that occur fairly frequently[ric.edu]

  • Kenny-Caffey Syndrome Type 1

    Hereditary skeletal dysplasia resulting in proportionate dwarfism characterized by thickening of the inner corticalis and stenosis of the medullary cavities of the tubular[accessanesthesiology.mhmedical.com] space between the first and second toes.[medcraveonline.com] The association of severe short stature, dysmorphic face, teeth abnormalities and bone dysplasia must guide us to suggest the diagnosis especially in the Middle Eastern and[abstracts.eurospe.org]

  • Kleiner Holmes Syndrome

    Skeletal dysplasias. In: McAteer M, editor. Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5 th ed.[ijri.org] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

  • Craniofrontonasal Dysplasia

    […] this panel Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel By Blueprint Genetics in Finland.[mendelian.co] 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] Head radiographs showed macrocephaly and brachycephaly with dysmorphic face. Rest infantogram was normal.[ruralneuropractice.com]

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