Create issue ticket

143 Possible Causes for Micromelic Dwarfism

  • 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]

  • 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]

  • Schneckenbecken Dysplasia

    , micromelic Intrauterine development Polyhydramnios Stillborn or lethal in the neonatal period Limbs Abnormality Brachydactyly Show images Precociously ossified carpal bones[datagenno.com] Metatropic Dwarfism, Type II Microcephalic Osteodysplastic Primordial Dwarfism Microcephaly-Micromelia Syndrome Micromelic Dwarfism Fryns Type midface dysplasia Miura type[rgd.mcw.edu] Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (18) Craniofacial Flat midface Macrocephaly Show images Growth Dwarfism[datagenno.com]

  • Rathbun Syndrome

    The Rathbun syndrome, also known as hypophosphatasia, is a congenital, autosomal recessive disease caused by defective encoding of tissue-nonspecific alkaline phosphatase leading to peripheral (serum and tissue) deficiency of this enzyme. The illness has several degrees of severity, causing symptoms at various[…][symptoma.com]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies,[…][ncbi.nlm.nih.gov]

  • Spondyloepiphyseal Dysplasia Type Cantú

    It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, 1 in 1 000 000 residents is affected. Transmission: Unknown It belongs to the Group of Congenital malformations, deformations and chromosomal abnormalities disorders. Ultimo aggiornamento : 01-07-2014 Orphanumber : 163654[…][aidweb.org]

  • Rhizomelic Chondrodysplasia Punctata Type 3

    Rhizomelic chondrodysplasia punctata (rhizomelic chondrodysplasia punctata) - Genes PEX7, GNPAT and AGPS Rhizomelic chondrodysplasia punctata is a process that affects the normal development of many parts of the body, whose main features include skeletal abnormalities, distinctive facial features, mental[…][ivami.com]

  • Melhem-Fahl Syndrome

    dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphobia Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retarda[statemaster.com] 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 Microphobia Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation[bioreference.net]

  • Ichthyosis Vulgaris

    This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straightening of the mandibular angle and[ncbi.nlm.nih.gov]

  • Mononen-Karnes-Senac Syndrome

    dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia[mindmappedia.com] Micromelic dwarfism Fryns type[?] Micromelic dysplasia dislocation of radius[?] Microphobia[?] Microphtalmos bilateral colobomatous orbital cyst[?][encyclopedia.kids.net.au] […] absent frontal sinuses Microd-Microv Microdontia hypodontia short stature Microencephaly Microgastria limb reduction defect Microgastria short stature diabetes Microinfarct Micromelic[thefullwiki.org]

Further symptoms

Similar symptoms