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20 Possible Causes for Alopecia, Dysmorphic Face, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    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] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • Dubowitz Syndrome

    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] […] dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial sclerosis Brachycephalofrontonasal dysplasia Thumb deformity, alopecia[checkrare.com] 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]

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] Additional external findings included alopecia universalis, penoscrotal hypospadias, ostium secundum type of atrial septal defect, right ventricular cardiac dilatation, diffuse[ncbi.nlm.nih.gov] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

  • Russell-Silver Syndrome

    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] Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com] […] and further dysmorphisms.[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    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] Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia[icd10data.com] Dysmorphic findings include a long face with a high forehead, up-or downslanting palpebral fissures, wide-spaced eyes, and sparse flared eyebrows.[karger.com]

  • Ring Chromosome 10

    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] […] karyotypes unavailable (12) 5 years/F––Growth delay–PMDDWilms tumor46,XX,r(11)(p15.5q25)Present case report5 years/FPrecocious puberty, severe hirsutism amenorrhea, androgenic alopecia[edmcasereports.com] face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait[chr7.org]

  • Atelosteogenesis Type 2

    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] Dysmorphism (Greek Morpheus, God of Sleep who may take any human “form” in dreams) is applied to a “bad form” of body part, often the facies (Latin) or “face” that can distinguish[musculoskeletalkey.com]

  • Cutis Laxa

    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] […] 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] Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 20. Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 21.[slideshare.net]

  • Nicolaides-Baraitser Syndrome

    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] (round and flat face, facial asymmetry with right/left hemi-hypoplasia, dolichocephaly, telecanthus, thick eyebrows, mild synophrys, short nose, hypertelorism, long philtrum[bredagenetics.com] Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental[rgd.mcw.edu]

  • Kleiner Holmes Syndrome

    […] 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] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

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