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25 Possible Causes for Alopecia, Skeletal Dysplasia, 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] Affected individuals displayed telangiectases, alopecia, and other malignancies such as nonmelanoma skin cancer, and less commonly breast cancer and cervical cancer.[preventiongenetics.com]

  • Down Syndrome

    Additional external findings included alopecia universalis, penoscrotal hypospadias, ostium secundum type of atrial septal defect, right ventricular cardiac dilatation, diffuse[ncbi.nlm.nih.gov] 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]

  • Dubowitz Syndrome

    […] dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial sclerosis Brachycephalofrontonasal dysplasia Thumb deformity, alopecia[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] Dysplasia Sotos Syndrome Spina Bifida Spondyloepiphyseal Dysplasia Tangiers Syndrome Trichorhinophalangeal Syndrome Trisomy 14, Mosaic Pattern Trisomy 18 Trisomy 21 trisomy[magicfoundation.org]

  • 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] […] androgenic alopecia, see androgenetic alopecia ANE1, see acute necrotizing encephalopathy type 1 Anemia, Dyserythropoietic, Congenital, see congenital dyserythropoietic anemia[mygenomics.com]

  • Russell-Silver Syndrome

    Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com] 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]

  • 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] Alopecia may occur on the affected side and nail involvement is common.[doi.org]

  • Weaver Syndrome

    Key words Weaver Syndrome Accelerated skeletal maturation Bone dysplasia Congenital malformation This is a preview of subscription content, log in to check access.[link.springer.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] Dysplasias and Disorders Panel method(s): Del/Dup (CNV) Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA TAT : 2-4 weeks price : contact lab[genetests.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] Physical examination revealed a 3x3 cm clover leaf-shaped sharply demarcated skin defect surrounded by a patch of alopecia in the scalp over the vertex in the midline (Figure[annsaudimed.net]

  • Cutis Laxa

    […] mutations in ATPase H transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia[ncbi.nlm.nih.gov] In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia[ncbi.nlm.nih.gov] 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]

  • 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] Alopecia, delayed closure of the anterior fontanel, and apparent thickening of the cortex in long bones may be seen.[disorders.eyes.arizona.edu]

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