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38 Possible Causes for Brachydactyly of the Foot, Coronal Synostosis, Depressed Nasal Tip

  • Craniosytosis Type 4

    The nose is typically short with a depressed bridge and a round nasal tip. Patients present with a high arched palate, delayed dental eruption and malocclusion.[dr-bianca-knoll.com] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] How is Coronal Synostosis Treated? Coronal synostosis must be treated with surgery.[stlouischildrens.org]

  • Saethre-Chotzen Syndrome

    In addition to partial cutaneous syndactyly, mild brachydactyly and clinodactyly of the 5th fingers are features in the hand and foot.[rrnursingschool.biz] tip, depressed nasal bridge.[nipt.ng] Abstract The Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with uni- or bilateral coronal synostosis and mild limb deformities.[ncbi.nlm.nih.gov]

  • Craniofrontonasal Dysplasia

    Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Finger syndactyly Hand polydactyly Hemihypotrophy of lower limb Preaxial foot polydactyly Sandal gap Toe[familydiagnosis.com] Eight patients had unilateral coronal synostosis (plagiocephaly) and 13 had bilateral coronal synostosis (brachycephaly).[ncbi.nlm.nih.gov] Background : Craniofrontonasal dysplasia is a rare, familial X-linked syndrome with coronal synostosis (brachycephaly or plagiocephaly), hypertelorbitism (frequently asymmetric[pubfacts.com]

  • Adactyly of Foot

    , unspecified lower limb Approximate Synonyms Brachydactyly of bilat toes Brachydactyly of bilateral toes Brachydactyly of left toes Brachydactyly of right toes Brachydactyly[icd9data.com] nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[mendelian.co] synostosis syndrome, 209 fibroblast growth factor receptor 1 (FGFR1) gene, 112 fibromatosis multiple, 26 fibrosis, 242 fibrous substrata, 66, 451 fibular aplasia complex[docplayer.net]

  • 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] synostosis, syndactyly and jejunal atresia * Coronaro-cardiac fistula * Coronary arteries congenital malformation * Coronary artery aneurysm * Corpus callosum agenesis *[medicalgeek.com]

  • 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]

  • 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] Coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single-point mutation in the FGFR3 gene on arm 4p. [49] See the image below.[emedicine.com]

  • Auriculoosteodysplasia

    […] muscles of hand • Aberrant muscle of the lower limb • Aberrant muscle of the upper limb • Abnormal endochondral bone formation • Absence of bone in arm • Absent bone in foot[coding-pro.com] Syndrome Facies Achondroplasia Frontal bossing, depressed nasal bridge Apert Proptosis, downsloping palpebral fissures Camptodactyly Flat face Cantu syndrome Full lips, long[musculoskeletalkey.com] Synostosis FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome FGFR3-Related Craniosynostosis FGFR3-Related Isolated Coronal Synostosis FGFR3-Related Lacrimo-Auriculo-Dento-Digital[genetests.org]

  • Metachondromatosis

    Syndrome Facies Achondroplasia Frontal bossing, depressed nasal bridge Apert Proptosis, downsloping palpebral fissures Camptodactyly Flat face Cantu syndrome Full lips, long[musculoskeletalkey.com] Radiograph of the left foot of IV-9. Note severe brachydactyly of metatarsal 4 and less severe brachymetatarsy 5 . Are exostoses present? Fig. 4 The pedigree.[docslide.net] Acrocephaly is due to coronal synostosis [A]: early decompressive craniectomy may limit mental deficiency.[musculoskeletalkey.com]

  • Atelosteogenesis Type 2

    nasal tip and large, prominent or cupped ears.[blueprintgenetics.com] , and distinct face Brachydactyly-hypertension syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome Hand-foot-genital syndrome Rubinstein-Taybi syndrome Brachydactyly[emedicine.medscape.com] Acrocephaly is due to coronal synostosis [A]: early decompressive craniectomy may limit mental deficiency.[musculoskeletalkey.com]