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184 Possible Causes for Narrow Greater Sacrosciatic Notch, Rhizomelia (Upper Extremities Greater than Lower Extremities), Severely Disproportionate Short Stature

Did you mean: Narrow Greater Sacrosciatic Notch, Rhizomelia (Upper Extremities Greater than Lower, Extremities), Severely Disproportionate Short Stature

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

    Missing: Rhizomelia (Upper Extremities Greater than Lower Extremities)
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[mendelian.co] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co] […] serration Rhizomelic arm shortening Large posterior fontanelle Cone-shaped metacarpal epiphyses Abnormality of the scapula Cyanotic episode Long fibula Vomiting Proteinuria Narrow[mendelian.co]

  • Dyggve-Melchior-Clausen Syndrome

    greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

    Missing: Rhizomelia (Upper Extremities Greater than Lower Extremities)
  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

    Missing: Rhizomelia (Upper Extremities Greater than Lower Extremities) Severely Disproportionate Short Stature
  • Kniest Dysplasia

    There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com]

    Missing: Narrow Greater Sacrosciatic Notch
  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    greater sacrosciatic notches ; Pectus carinatum ; Pes planus ; Platyspondyly ; Protuberant abdomen ; Scoliosis ; Severe short stature ; Spondyloepimetaphyseal dysplasia Associated[mousephenotype.org] greater sacrosciatic notches 0003375 Pectus carinatum Pigeon chest 0000768 Pes planus Flat feet Flat foot [ more ] 0001763 Protuberant abdomen Belly sticks out Extended belly[rarediseases.info.nih.gov] Genu valgum ; Hyperlordosis ; Hypoplasia of the odontoid process ; Hypoplastic pubic bone ; Inguinal hernia ; Metaphyseal dappling ; Metaphyseal irregularity ; Myopia ; Narrow[mousephenotype.org]

    Missing: Rhizomelia (Upper Extremities Greater than Lower Extremities) Severely Disproportionate Short Stature
  • Anauxetic Dysplasia

    Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov] Disproportionate short-limb short stature is the hallmark finding and is usually recognized in the newborn and occasionally prenatally.[ncbi.nlm.nih.gov]

    Missing: Narrow Greater Sacrosciatic Notch Rhizomelia (Upper Extremities Greater than Lower Extremities)
  • SAMS Syndrome

    A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was[…][ncbi.nlm.nih.gov]

    Missing: Rhizomelia (Upper Extremities Greater than Lower Extremities) Severely Disproportionate Short Stature
  • Mucopolysaccharidosis 7

    Authors *Paediatric Research Unit, Guy's Hospital Medical School, London S.E. I. Search for more papers by this author M. F. Dean, †The Mathilda and Terence Kennedy Institute of Rheumatology, London W.6. Search for more papers by this author Helen Muir† †The Mathilda and Terence Kennedy Institute of Rheumatology,[…][onlinelibrary.wiley.com]

    Missing: Rhizomelia (Upper Extremities Greater than Lower Extremities) Severely Disproportionate Short Stature
  • Platyspondyly

    greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[sajr.org.za]

    Missing: Rhizomelia (Upper Extremities Greater than Lower Extremities)