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61 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Short Stature in Children

  • Wiedemann-Steiner Syndrome

    nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted palpebral fissures[rarediseases.info.nih.gov] Investigation of pituitary function should be undertaken in children with WSS and short stature.[ncbi.nlm.nih.gov] Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair[ncbi.nlm.nih.gov]

  • Robinow Syndrome

    […] and deformed pronated foot.[ncbi.nlm.nih.gov] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature.[rarediseases.org]

  • Saethre-Chotzen Syndrome

    tip, depressed nasal bridge.[nipt.ng] In addition to partial cutaneous syndactyly, mild brachydactyly and clinodactyly of the 5th fingers are features in the hand and foot.[rrnursingschool.biz] In addition to fused sutures, children with Saethre Chotzen syndrome also have a characteristic low-set hairline, a “beaked” nose and short stature.[mercy.net]

  • Thanatophoric Dysplasia

    […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar] The pregnancy was subsequently terminated, and a 480-g malformed fetus was delivered with macrocephaly, depressed nasal bridge, short upturned nasal tip, hypoplastic midface[ncbi.nlm.nih.gov] Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

    […] or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM), or lobster claw syndrome.[pinterest.de] 1%-4% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Bifid tongue Cleft tongue Forked[rarediseases.info.nih.gov] Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature.[rarediseases.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    nasal tip Generalized osteosclerosis Triangular mouth Cataract Umbilical hernia Epicanthus Myopia Microphthalmia Syndactyly Telecanthus Toe syndactyly Thin vermilion border[mendelian.co] Most children with short stature have normal variants such as familial short stature, constitutional delay of growth and puberty, or idiopathic short stature.[aafp.org] In older individuals, the chin and nasal tip becomes more prominent and the face elongates.[chginc.org]

  • Metaphyseal Acroscyphodysplasia

    The differential diagnosis of GNAS- orPDE4D-related disorders from others requires the accurate assess-ment for features of acrodysostosis type 2 (depressed nasal root,short[docslide.us] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] Jansen type In addition to the above-mentioned signs, Jansen-type metaphyseal chondrodysplasia is characterized by short arms, legs, and stature (short-limbed dwarfism), which[encyclopedia.com]

  • Mandibulofacial Dysostosis

    Radiographs showed severe brachydactyly with short metacarpals II-V, metatarsals II-IV and phalanges, first ray hyperplasia of the foot, cone-shaped epiphyses, and early epiphyseal[jcrpe.org] […] bone (nasal hypoplasia) so that the nose is abnormally small and the bridge of the nose may be flattened or depressed.[rarediseases.org] Not all short stature needs treatment. For children who are naturally short, no treatment is necessary.[healthline.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    In fact, the ratio of the width of the great toe to the second toe may be useful in diagnosing this syndrome. 87 , 91 Brachydactyly, clinodactyly, and partial soft tissue[entokey.com] nasal bridge; Short nose; Upturned nasal tip; [Mouth]; Large, carp-shaped mouth; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Ventricular septal defect; Atrial septal defect[genome.jp] --CHLOROFORM Water," " MYRINGITIS BULLOSA---caused by Virus," "NASAL DEPRESSED BRIDGE--- caused by Syphylis, Septal Abscess, Injury," CROOKED NOSE---due to Deviated Tip &[mypgnotes.com]

  • Schwartz-Lelek Syndrome

    brachydactyly of toes[csbg.cnb.csic.es] nasal tip Abnormality of the upper urinary tract Subcortical cerebral atrophy Enlarged cisterna magna Cortical dysplasia Shawl scrotum Delayed speech and language development[mendelian.co] Jansen type In addition to the above-mentioned signs, Jansen-type metaphyseal chondrodysplasia is characterized by short arms, legs, and stature (short-limbed dwarfism), which[encyclopedia.com]