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823 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Mutation in the MLL Gene

  • 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[] Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[] Offspring of those with WSS have a 50% chance of having WSS. [6] The mechanism by which mutations in the MLL gene cause the phenotype of Wiedemann–Steiner syndrome is not[]

  • Kabuki Syndrome

    Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation[] MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found.[] nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.[]

    Missing: Brachydactyly of the Foot
  • 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[] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[] […] nose with broad nasal tip, and short philtrum), PHP (roundface, brachydactyly, short stature, obesity, and intellectual im-pairment), and endocrinological abnormality.In[]

    Missing: Mutation in the MLL Gene
  • Postaxial Oligodactyly, Tetramelic

    nasal tip Panhypopituitarism Bilateral cleft lip Bilateral cleft lip and palate Median cleft lip Hypopituitarism Omphalocele Spastic diplegia Dental malocclusion Spontaneous[] Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly Stroke Joint hypermobility Scarring[] AD Hypodontia (may be part of EEC spectrum) Split-hand/foot with micrognathia 246560 AD Micrognathia Triphalangeal thumbs with brachyectrodactyly 190680 AD Brachydactyly,[]

    Missing: Mutation in the MLL Gene
  • Adactyly of Foot

    nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[] , unspecified lower limb Approximate Synonyms Brachydactyly of bilat toes Brachydactyly of bilateral toes Brachydactyly of left toes Brachydactyly of right toes Brachydactyly[] nasal root and tip Comments:Note the difference from Depressed nasal bridge.[]

    Missing: Mutation in the MLL Gene
  • 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[] In older individuals, the chin and nasal tip becomes more prominent and the face elongates.[] Autosomal dominant inheritance Sparse hair Large fontanelles Osteolysis Joint stiffness Short foot Short nose Short finger Short distal phalanx of finger Sparse eyelashes[]

    Missing: Mutation in the MLL Gene
  • Craniosytosis Type 4

    […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[] 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.[] […] syndrome Ulnar-mammary syndrome Ulnar/fibula ray defect-brachydactyly syndrome Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral polymicrogyria[]

    Missing: Mutation in the MLL Gene
  • Mandibulofacial Dysostosis

    […] bone (nasal hypoplasia) so that the nose is abnormally small and the bridge of the nose may be flattened or depressed.[] 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[] In some cases, the tip of the nose is rounded (bulbous) and the nostrils point upward giving the appearance of an upturned nose (anteverted nares).[]

    Missing: Mutation in the MLL Gene
  • 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[] 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[] --CHLOROFORM Water," " MYRINGITIS BULLOSA---caused by Virus," "NASAL DEPRESSED BRIDGE--- caused by Syphylis, Septal Abscess, Injury," CROOKED NOSE---due to Deviated Tip &[]

    Missing: Mutation in the MLL Gene
  • Schwartz-Lelek Syndrome

    brachydactyly of toes[] nasal tip Abnormality of the upper urinary tract Subcortical cerebral atrophy Enlarged cisterna magna Cortical dysplasia Shawl scrotum Delayed speech and language development[] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[]

    Missing: Mutation in the MLL Gene