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37 Possible Causes for Brachydactyly of the Foot, Cone-Shaped Epiphyses of Phalanges, Depressed Nasal Tip

  • Metaphyseal Acroscyphodysplasia

    Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses.[] 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[]

  • Distal Symphalangism

    epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones.[] […] premaxillary region Broad/bulbous nasal tip Brittle hair/trichorrhexis nodosa/pili torti Irregular length or shape of toes Facies significantly abnormal Natal/neonatal teeth[] Signs and symptoms : Signs and symptoms may include chess-pawn distal phalanges, camptodactyly of finger (permanent flexion of the finger), pes cavus (high-arched foot), brachydactyly[]

  • Postaxial Oligodactyly, Tetramelic

    […] absent 5th metatarsals normal tarsal bones cone-shaped epiphyses (2nd-4th) Skeletal Limbs: mild radial bowing normal ulnae Skeletal Hands: postaxial oligodactyly single transverse[] 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[]

  • Mandibulofacial Dysostosis

    He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges.[] […] 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[]

  • Microdontia

    Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.[] nasal tip Mitral regurgitation Sleep apnea Hypoplasia of the odontoid process Abnormal heart valve morphology Pulmonary edema Delayed speech and language development Brachydactyly[] (including brachydactyly)Wide sutures/delayed fusion of suturesMissing permanent teeth/retained deciduous teethMicrognathia/agnathia/retrognathiaDysplastic/grooved/thick[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] epiphysis Increased number of teeth Exostoses Sparse lateral eyebrow Long upper lip High forehead Accelerated bone age after puberty Pear-shaped nose Cone-shaped epiphyses[] In older individuals, the chin and nasal tip becomes more prominent and the face elongates.[] nasal tip Generalized osteosclerosis Triangular mouth Cataract Umbilical hernia Epicanthus Myopia Microphthalmia Syndactyly Telecanthus Toe syndactyly Thin vermilion border[]

  • Adactyly of Foot

    epiphyses of the phalanges of the hand Coronal craniosynostosis Esophageal atresia Carpal synostosis Megalencephaly Hyperactivity Joint hypermobility Cone-shaped epiphysis[] 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[]

  • Saethre-Chotzen Syndrome

    Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature.[] In addition to partial cutaneous syndactyly, mild brachydactyly and clinodactyly of the 5th fingers are features in the hand and foot.[] tip, depressed nasal bridge.[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Seizures Bowing of the long bones Spondylometaphyseal dysplasia Combined immunodeficiency Cone-shaped epiphyses of the phalanges of the hand Hypermelanotic macule Encephalitis[] Midface hypoplasia, depressed nasal bridge in childhood, anteverted nares (tipped or bent nasal cavity openings), split uvula, cleft hard palate, micrognathia, Pierre-Robin[] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[]

  • Ulna Metaphyseal Dysplasia Syndrome

    PMID 12136008 Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal[] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[]

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