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82 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Dysmorphic Ears

  • 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] Dysmorphism, including long eyelashes, thick arched eyebrows, downslanting and vertically narrow palpebral fissures, hypertelorism, low set ears, ptosis and mild facial asymmetry[ncbi.nlm.nih.gov] Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with[mendelian.co]

  • 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] (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia).[mendelian.co]

  • Schwartz-Lelek Syndrome

    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] brachydactyly of toes[csbg.cnb.csic.es] ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic[mendelian.co]

  • Postaxial Oligodactyly, Tetramelic

    nasal tip Panhypopituitarism Bilateral cleft lip Bilateral cleft lip and palate Median cleft lip Hypopituitarism Omphalocele Spastic diplegia Dental malocclusion Spontaneous[mendelian.co] Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly Stroke Joint hypermobility Scarring[mendelian.co] […] facies, abnormal ears Split-hand/foot malformation with long-bone deficiency 1 119100 AD ?[docksci.com]

  • 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] The ears appear prominent and anteverted. Additional dysmorphic features are telecanthus, epicanthal folds, ptosis and facial asymmetry.[ojrd.biomedcentral.com] In older individuals, the chin and nasal tip becomes more prominent and the face elongates.[chginc.org]

  • Adactyly of Foot

    nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[mendelian.co] , unspecified lower limb Approximate Synonyms Brachydactyly of bilat toes Brachydactyly of bilateral toes Brachydactyly of left toes Brachydactyly of right toes Brachydactyly[icd9data.com] These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance.[ncbi.nlm.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    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] 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] --CHLOROFORM Water," " MYRINGITIS BULLOSA---caused by Virus," "NASAL DEPRESSED BRIDGE--- caused by Syphylis, Septal Abscess, Injury," CROOKED NOSE---due to Deviated Tip &[mypgnotes.com]

  • 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] It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ears, and other variable facial and limb abnormalities.[ncbi.nlm.nih.gov]

  • Mandibulofacial Dysostosis

    […] bone (nasal hypoplasia) so that the nose is abnormally small and the bridge of the nose may be flattened or depressed.[rarediseases.org] 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] Patients have facial dysmorphism including mid-face hypoplasia, micrognathia and characteristic external ear malformation with small, simple, protuberant ears.[exeterlaboratory.com]

  • Cenani Syndactylism

    A minor depression on the nasal tip of one of the subject (504) was notable (Fig. 2D).[kundoc.com] Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes[mendelian.co] However, some patients in published reports have large, prominent ears. A recent report suggested midfacial dysmorphism i in two patients with CLS ().[kabukisyndrome.com]

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