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88 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Joint Deformity

  • 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] A 13-year-old boy with malar and mandibular hypoplasia, abnormal ears, short soft palate, retarded growth, mild deformities of the elbow joints, hypoplasia of the right thumb[ncbi.nlm.nih.gov]

  • 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[rarediseases.info.nih.gov] In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes ( camptodactyly ), and joint deformities (contractures) in the elbows and[ghr.nlm.nih.gov] […] hair 757.4 hand 755.59 heart 746.89 hepatic duct 751.69 hydatid of Morgagni 752.89 hymen 752.49 integument 757.8 intestine (large) (small) 751.5 iris 743.46 jejunum 751.5 joint[icd9data.com]

  • 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[docslide.us] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features.[ncbi.nlm.nih.gov]

  • 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] MC does not lead to shortening or bowing of the long bones, joint deformity, or subluxation. The lesions spontaneously decrease in size or regress.[orpha.net]

  • Non-Syndromic Tibial Hemimelia

    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] Affected animals possess two copies of the defective allele and are born with severe deformities including twisted rear legs with fused joints, large abdominal hernias and[genetics.zoetis.com]

  • Kniest Dysplasia

    Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] Keywords Club Foot Skeletal Dysplasia COL2A1 Gene Otosclerosis Brachydactyly Background Type II collagenopathies range from lethal forms (Achondrogenesis II, Hypochondrogenesis[ojrd.biomedcentral.com] Joint contractures, spinal deformity, and premature arthropathy are common long term problems.[advancedradteaching.com]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    , and distinct face Brachydactyly-hypertension syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome Hand-foot-genital syndrome Rubinstein-Taybi syndrome Brachydactyly[emedicine.medscape.com] tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more[rarediseases.info.nih.gov] Caution with positioning of head and short limbs with deformed joints. There are no known specific implications with this condition.[accessanesthesiology.mhmedical.com]

  • Adactyly of Foot

    nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[mendelian.co] , unspecified lower limb Approximate Synonyms Brachydactyly of bilat toes Brachydactyly of bilateral toes Brachydactyly of left toes Brachydactyly of right toes Brachydactyly[icd9data.com] Any bony or joint deformity of the first or fifth ray should be corrected at the time of surgery.[research-journal.net]

  • Distal Symphalangism

    […] 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] Eventually bone and joint deformity develops ( Figure 6-5 ). Camptodactyly often presents during periods of accelerated growth.[musculoskeletalkey.com]

  • Cenani Syndactylism

    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] Diagnosis Diagnosis of whether the syndrome's deformity is due to joint/bone disease or neurologic disease is generally simple; an X-ray of the feet or hands can be useful[dianamossop.com]

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