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55 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Knee Flexion

  • Metaphyseal Acroscyphodysplasia

    […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] […] with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee[pure.unipa.it] 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]

  • Non-Syndromic Tibial Hemimelia

    Many of the poor outcomes were due to knee flexion contractures, knee instability, and poor range-of-motion (ROM).[paleyinstitute.org] nasal bridge and ridge, bifid nasal tip, hypogonadism, and body agenesis.[m.eurekamag.com] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de]

  • Postaxial Oligodactyly, Tetramelic

    […] fingers of the hand Calcaneovalgus deformity Hand clenching Distal arthrogryposis Trismus Hip contracture Rocker bottom foot Metatarsus adductus Narrow mouth Adducted thumb Knee[mendelian.co] nasal tip Panhypopituitarism Bilateral cleft lip Bilateral cleft lip and palate Median cleft lip Hypopituitarism Omphalocele Spastic diplegia Dental malocclusion Spontaneous[mendelian.co] AD Hypodontia (may be part of EEC spectrum) Split-hand/foot with micrognathia 246560 AD Micrognathia Triphalangeal thumbs with brachyectrodactyly 190680 AD Brachydactyly,[docksci.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Broad nasal tip Osteolytic defects of the distal phalanges of the hand Progressive clavicular acroosteolysis Kyphoscoliosis Ptosis Prominent nose Sparse and thin eyebrow Knee[mendelian.co] Contractures of the knees and ankles may be present at birth and often improve with age.[nature.com] In older individuals, the chin and nasal tip becomes more prominent and the face elongates.[chginc.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] contracture Epicanthus Hypospadias Syndactyly Prominent forehead Oxycephaly Skeletal dysplasia Rhizomelia Long eyelashes Knee flexion contracture Deep philtrum Sclerocornea[mendelian.co] 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]

  • 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] Other limb malformations include oligodactyly with thumb aplasia or hypoplasia, syndactyly, clinodactyly, and elbow and knee flexion contractures.[ncbi.nlm.nih.gov] nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[mendelian.co]

  • Distal Symphalangism

    […] fingers of the hand Calcaneovalgus deformity Hand clenching Distal arthrogryposis Trismus Hip contracture Rocker bottom foot Metatarsus adductus Narrow mouth Adducted thumb Knee[mendelian.co] […] premaxillary region Broad/bulbous nasal tip Brittle hair/trichorrhexis nodosa/pili torti Irregular length or shape of toes Facies significantly abnormal Natal/neonatal teeth[head-face-med.biomedcentral.com] 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[xpertdox.com]

  • Schwartz-Lelek Syndrome

    […] deformity of knees & elbows develops Ligamentous laxity and genu varum X-Rays Similar to achondroplasia but less severe Pathology A mild form of achondroplasia Treatment[flinders.edu.au] 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]

  • Acrorenal Mandibular Syndrome

    […] retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot[checkrare.com] […] of the hips, knees, elbows and wrists.[sonoworld.com] […] base with depressed nasal tip.[jclpca.org]

  • Cenani Syndactylism

    […] contractures of the knee and elbow were evident ( Figure 3 ).[omicsonline.org] 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]

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