Create issue ticket

91 Possible Causes for Cone-Shaped Epiphyses of Phalanges, Desbuquois Dysplasia

  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses.[rarediseases.info.nih.gov] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] Skeletal abnormalities may include cone shaped epiphyses at the phalanges, hip dysplasia and short stature [ 92 ].[intechopen.com] CONCLUSION: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges[ncbi.nlm.nih.gov] Additional skeletal features may include: ivory epiphyses 3 cone-shaped epiphyses in the proximal phalanges 3. absent thumb History and etymology Named after Helmut Paul George[radiopaedia.org]

  • Trichorhinophalangeal Dysplasia Type 1

    […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] epiphyses at phalanges, hip malformations and short stature.[medical-dictionary.thefreedictionary.com] […] nails 0001598 Cone-shaped epiphyses of the middle phalanges of the hand Cone-shaped end part of the middle hand bones 0010259 Cone-shaped epiphyses of the proximal phalanges[rarediseases.info.nih.gov]

  • Spondyloperipheral Dysplasia

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Flat acetabular roof 0003180 Flat capital femoral epiphysis Flat end part of innermost[rarediseases.info.nih.gov] epiphyses Brachydactyly E-like changes Broad hands Short proximal and middle phalanges Very short distal phalanges (2nd, 3rd, 4th, 5th) Short, broad thumbs Short fingers[mnglabs.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial[rgd.mcw.edu] Seizures Bowing of the long bones Spondylometaphyseal dysplasia Combined immunodeficiency Cone-shaped epiphyses of the phalanges of the hand Hypermelanotic macule Encephalitis[mendelian.co] […] with joint laxity, Ehlers-Danlos syndrome AR 17 26 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome XL 8 7 CANT1 Desbuquois dysplasia AR 20 28 CHST3[blueprintgenetics.com]

  • Coxa Valga

    Desbuquois dysplasia 1 MedGen UID: 860583 • Concept ID: C4012146 • Disease or Syndrome Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to[ncbi.nlm.nih.gov] dysplasia 1 C4012146 OMIM 25 85 HP:0002673 HP:0002673 Coxa valga 0 COL11A1 1301 154780 Marshall syndrome C0265235 OMIM 78 215 HP:0002673 HP:0002673 Coxa valga 0 COL2A1 1280[mseqdr.org] , metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals (summary by Ferreira et al., 2018).[ncbi.nlm.nih.gov]

  • Coxa Vara

    dysplasia 1 C4012146 OMIM2585HP:0002812 HP:0002812 Coxa vara0 COL10A1 1300 174 Macrogyria, pseudobulbar palsy and mental retardation ORPHA5079HP:0002812 HP:0002812 Coxa vara0[mseqdr.org] Accessory epiphyses, especially involving second metacarpal and cone-shaped epiphyses may be radiologically evident.[scielo.org.za] […] syndrome C0406587 OMIM53140HP:0002812 HP:0002812 Coxa vara0 CANT1 124583 1425 Cole-Carpenter syndrome C1862178 ORPHA2585HP:0002812 HP:0002812 Coxa vara0 CANT1 124583 251450 Desbuquois[mseqdr.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Congenital Micromelic Dysplasia with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Eiken[rgd.mcw.edu] epiphyses of the phalanges of the hand TAS TAS OMIM:250220 HPO:probinson 17.02.2009 OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0011675 Arrhythmia TAS[sourceforge.net] […] with joint laxity, Ehlers-Danlos syndrome AR 17 27 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome XL 8 7 CANT1 Desbuquois dysplasia AR 20 28 CHST3[blueprintgenetics.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370).[jcrpe.org] Note hypoplastic phalanges (arrow) and cone-shaped epiphyses. Fig. 3. Brain CT scan. Semilobar holoprosencephaly. Severe Expression of the Genoa Syndrome?[dev.docslide.net]

Further symptoms

Similar symptoms