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2,439 Possible Causes for Flat Supraorbital Ridges, Skeletal Dysplasia, Wide Space Between the First and Second Toe

  • 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] Facial appearance is characteristic with narrow or triangular shaped head and high or sloping forehead, flat supraorbital ridge, scanty lateral eyebrows, short palpebral fissures[orpha.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]

  • Pseudoaminopterin Syndrome

    dysplasia, de la Chapelle type 古庄 知己 653 335 skeletal dysplasia, Fuhrmann type 岡本 伸彦 655 336 skeletal dysplasia, Schneckenbecken type 岡本 伸彦 657 337 skeletal dysplasia, Weismann-Netter[nippon-rinsho.co.jp] Very Small Stature, Not Skeletal Dysplasia Brachmann-De Lange Syndrome Rubinstein-Taybi Syndrome Russell-Silver Syndrome Short Syndrome 3-M Syndrome Mulibrey Nanism Syndrome[geneeskundeboek.nl] […] brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome[sosu.us]

    Missing: Wide Space Between the First and Second Toe
  • Down Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.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]

    Missing: Flat Supraorbital Ridges
  • 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] Diastrophic dysplasia (DTD) is a severe, though usually nonlethal form of skeletal dysplasia with marked short stature, bilateral clubfoot, cleft palate, characteristic hand[sybil-fp7.eu]

    Missing: Flat Supraorbital Ridges
  • Gorlin-Chaudhry-Moss Syndrome

    Syndrome Clouston Syndrome Coffin-Siris Syndrome Cooks Syndrome Corneodermatoosseous Syndrome Cranioectodermal Dysplasia 1 Deafness with Anhidrotic Ectodermal Dysplasia Deafness[nfed.org] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebro-oculo-facio-skeletal syndrome Cerebrofacial dysplasia Child syndrome Chimera Chronic infantile neurological[emedcodes.com] , Conductive, with Ptosis and Skeletal Anomalies Deafness, Congenital, and Onychodystrophy, Autosomal Dominant Deafness, Onychodstrophy, Osteodystrophy, Mental Retardation[nfed.org]

    Missing: Wide Space Between the First and Second Toe
  • 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] Dysplasias and Disorders Panel.[blueprintgenetics.com]

    Missing: Flat Supraorbital Ridges
  • 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] These findings further delineate the spectrum of this rare autosomal recessive skeletal dysplasia.[ncbi.nlm.nih.gov]

    Missing: Flat Supraorbital Ridges
  • 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] This is unlike the pattern in other growth disorders such as Turner syndrome and skeletal dysplasia where parental height has an influence on final height outcome.[jmg.bmj.com]

    Missing: Flat Supraorbital Ridges
  • 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] L. / Atelosteogenesis type III : A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.[jhu.pure.elsevier.com]

    Missing: Flat Supraorbital Ridges
  • 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] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first[rarediseases.info.nih.gov]

    Missing: Flat Supraorbital Ridges

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