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20 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Sagittal Synostosis

  • Craniosytosis Type 4

    The distribution between the different synostosis are as follows: Sagittal synostosis 40 – 55 % Coronal synostosis 20 – 25 % Metopic synostosis 5 - 15 % Lambdoid synostosis[www2.aofoundation.org] 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]

  • Craniofrontonasal Dysplasia

    Sagittal synostosis has been reported in one female with CFNS, where the sagittal synostosis was accompanied by bicoronal synostosis. 6 Hemizygous males usually manifest hypertelorism[ncbi.nlm.nih.gov] tip Brachycephaly Cleft lip /palate Cleft palate Cleft upper lip Craniosynostosis Depressed nasal ridge Downslanted palpebral fissures Facial asymmetry Frontal bossing High[familydiagnosis.com] Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. ( 26180728 ) Chauhan B.K....Nischal K.K. 2015 8 Report of a family with craniofrontonasal[malacards.org]

  • Saethre-Chotzen Syndrome

    The authors present a new and unique pattern of sutural fusion "peace sign synostosis" (PSS) characterized by synostosis of the metopic, bicoronal, and sagittal sutures and[ncbi.nlm.nih.gov] 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]

  • Schwartz-Lelek Syndrome

    synostosis associated with chromosome abnormalities Schizencephaly Schmid metaphyseal chondrodystrophy Seckel syndrome Severe combined immune deficiency Short rib polydactyly[berri.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] brachydactyly of toes[csbg.cnb.csic.es]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Moss speculated that spatially malformed lesser sphenoidal wings in coronal synostosis, and a malformed cribriform plate in sagittal synostosis transmit aberrant tensile forces[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]

  • Pfeiffer-Palm-Teller Syndrome

    Cranial asymmetry Inspiratory stridor Hiatus hernia Unilateral cleft lip Cavum septum pellucidum Dilated fourth ventricle Ankyloglossia Aplasia cutis congenita of scalp Sagittal[mendelian.co] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] […] retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot[checkrare.com]

  • Thanatophoric Dysplasia

    Marked acrocephaly, synostosis of the sagittal and coronalsutures ,wide separation of both squamosal sutures, downward displacement of the temporal squamae, and crenated structure[slideheaven.com] 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] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar]

  • Anonychia Congenita Totalis

    Non-syndromic biliary atresia Non-syndromic congenital retinal non-attachment Non-syndromic metopic craniosynostosis Non-syndromic sagittal synostosis Non-syndromic unicoronal[csbg.cnb.csic.es] nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae,[mendelian.co] Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. Indian J Hum Genet 2014;20:206-8. [ PUBMED ] 3.[ijpd.in]

  • Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability

    synostosis - limb abnormalities such as extra digits on feet - cardiac abnormalities - AD inheritance - brachycephaly - frontal bossing - wormian bones - delayed eruption[quizlet.com] The following diagnostic criteria must be fulfilled: characteristic facial features including long eye lids, arched eyebrows thinning towards the temples, a depressed nasal[socialstyrelsen.se] NOG Synostosis of talus and calcaneus with short stature NOG Synpolydactyly 1 (SPD1) HOXD13 del Synpolydactyly with foot anomalies HOXD13 del Systemic juvenile hyalinosis[uniklinik-freiburg.de]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    synostosis - limb abnormalities such as extra digits on feet - cardiac abnormalities - AD inheritance - brachycephaly - frontal bossing - wormian bones - delayed eruption[quizlet.com] […] bridge, depressed nasal tip, cupped and protruding ears, depressed premaxillary region, malaligned teeth, flattened occiput, inferiolaterally displaced nipple, partial syndactyly[chr7.org] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar]