Create issue ticket

496 Possible Causes for Micromelic Dwarfism, Shortening of the Metatarsals, Tarsal Bone Age Advanced

  • Schneckenbecken Dysplasia

    Shortening ; 24.8 Spondyloepiphyseal Dysplasia with Premature Onset Arthrosis ; 24.9 Vitreoretinopathy with phalangeal epiphyseal dysplasia ; 24.10 Stickler Dysplasia ; 25[bookdepository.com] , micromelic Intrauterine development Polyhydramnios Stillborn or lethal in the neonatal period Limbs Abnormality Brachydactyly Show images Precociously ossified carpal bones[datagenno.com] bone age Early bone maturation [ more ] 0005616 Advanced tarsal ossification 0008108 Cleft palate Cleft roof of mouth 0000175 Diaphyseal thickening Thickening of shaft or[rarediseases.info.nih.gov]

  • Atelosteogenesis

    Clinically, the patients have micromelic dwarfism with incurvated legs, club feet, often dislocation of the elbows, and, rarely, a cleft palate.[ncbi.nlm.nih.gov]

    Missing: Tarsal Bone Age Advanced
  • Spondyloepiphyseal Dysplasia Type Cantú

    shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1[genda.com.ar] The metatarsal and phalanges of the first toe were relatively broader than normal; the metatarsal and its phalanges in the second toe were larger than the others.[docslide.com.br] […] deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal[genda.com.ar]

    Missing: Tarsal Bone Age Advanced
  • Melhem-Fahl Syndrome

    dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphobia Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retarda[statemaster.com] Multiple Fractures 3 278 CRP008 Carpo Tarsal Osteolysis Recessive 3 279 CRN080 Craniofacial and Skeletal Defects 3 280 GGN003 Gigantism Advanced Bone Age Hoarse Cry 3 281[malacards.org] dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia[mindmappedia.com]

    Missing: Shortening of the Metatarsals
  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Torrance type) Hypochondrogenesis SED (congenital) SEMD (Strudwick type) Kniest dysplasia Spondyloperipheral dysplasia Mild SED with premature onset arthrosis SED with metatarsal[emedicine.medscape.com] shortening Stickler syndrome type 1 Type 11 collagen group This includes the following conditions: Stickler syndrome types 2 and 3 Marshall syndrome Fibrochondrogenesis Otospondylomegaepiphyseal[emedicine.medscape.com]

    Missing: Tarsal Bone Age Advanced
  • Mononen-Karnes-Senac Syndrome

    1st long bone of hand 0010034 Short first metatarsal Short 1st long bone of foot 0010105 Synostosis of carpals/tarsals Wrist bone/ankle bone fusions 0100266 X-linked dominant[rarediseases.info.nih.gov] dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia[mindmappedia.com] dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia Microphthalmia, Lentz type Microphthalmia[en.wikipedia.org]

    Missing: Tarsal Bone Age Advanced
  • Metaphyseal Acroscyphodysplasia

    All patients demonstrated shortening ofmetacarpals, metatarsals, and phalanges.[docslide.us] A case report. ( 9269176 ) Lindberg E.J....Watts H.G. 1997 48 Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. ( 8669445[malacards.org] Shortening 24.8 Spondyloepiphyseal Dysplasia with Premature Onset Arthrosis 24.9 Vitreoretinopathy with phalangeal epiphyseal dysplasia 24.10 Stickler Dysplasia 25.[amazon.it]

    Missing: Tarsal Bone Age Advanced
  • Osteogenesis Imperfecta Type 2

    Several distinct subtypes have been identified, all of which lead to micromelic (short-limbed) dwarfism of varying degree.[writerightmel.wordpress.com]

    Missing: Shortening of the Metatarsals Tarsal Bone Age Advanced
  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    There is irregular deformity and shortening of the metacarpal bones, metatarsal bones, and phalanges, along with abduction of the great toes and clubfeet.[pubs.rsna.org] Thanatophoric dysplasia: A form of short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth.[medicinenet.com] Types thanatophoric dysplasia type 1 thanatophoric dysplasia type 2 Synopsis systemic anomalies lethal disproportinate dwarfism micromelic dwarfism severe growth deficiency[humpath.com]

    Missing: Tarsal Bone Age Advanced
  • Pseudopseudohypoparathyroidism

    A 31-year-old woman with the characteristic features of pseudopseudohypoparathyroidism, such as shortened metacarpals and metatarsals, round facies, and normal serum calcium[ncbi.nlm.nih.gov] Common musculoskeletal anomalies associated with PPH include shortening/bowing of long bones; shortening of metacarpals, metatarsals, and/or phalanges; exostoses; calcification[ncbi.nlm.nih.gov] […] fourth metacarpals/metatarsals and associated apparent shortening of fourth digits pseudopseudohypoparathyroidism an incomplete form of pseudohypoparathyroidism, marked by[medical-dictionary.thefreedictionary.com]

    Missing: Micromelic Dwarfism Tarsal Bone Age Advanced

Similar symptoms