Create issue ticket

15 Possible Causes for Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature, Short Stature

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe[malacards.org] 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]

  • Dyggve-Melchior-Clausen Syndrome

    Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID[ncbi.nlm.nih.gov] 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] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    The co-occurrence of skeletal dysplasia and ophthalmologic abnormality is extremely rare.[ncbi.nlm.nih.gov] greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[rarediseases.info.nih.gov] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov]

  • Platyspondyly

    Prominent clinical findings included short stature with platyspondyly, flat midface and Pierre Robin sequence, severe dysplasia of the proximal femora, and severe retinopathy[ncbi.nlm.nih.gov] 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]

  • Pelviscapular Dysplasia

    Overview Pelviscapular dysplasia (medical condition): A rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities[checkorphan.org] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[mendelian.co]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Stature Syndrome, Brussels Type Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Silverman-Handmaker type dyssegmental dysplasia Situs Inversus Totalis[rgd.mcw.edu] 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]

  • Distal Symphalangism

    There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co] stature, facial dysmorphism 118, 241 Nog Brachydactyly type B 2 (BDB2) 611377 Distal symphalangism, multiple joint fusion of distal bones 242 Tarsal–Carpal coalition syndrome[nature.com] […] phalanx of finger Abnormality of epiphysis morphology Limitation of joint mobility Micromelia Severe short stature Oval face Scaphocephaly Short middle phalanx of finger[mendelian.co]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co] stature.[mendelian.co] XL megalocornea hypertelorism antimongoloid palpebral fissures short stature sydactyly XL lethal to males corpus callosal agenesis & other CNS abnormalities infantile spasms[quizlet.com]

  • Metaphyseal Chondrodysplasia Type Kaitila

    Disproportionate short-limb short stature MedGen UID: 342370 • Concept ID: C1849937 • Finding A type of disproportionate short stature characterized by a short limbs but an[ncbi.nlm.nih.gov] greater sacrosciatic notches Hepatic cysts Microtia Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Short palm Short metacarpal Thick vermilion[mendelian.co] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[documents.tips]

  • Komuragaeri Disease

    B: Proportionate short stature and hypertrophicmuscles of lower limbs are noted. C: X-ray hand and feet.[documents.tips] greater sacrosciatic notches Abnormal sacrum morphology Brachyturricephaly Bicoronal synostosis Acanthoma Acrania Convex nasal ridge Cementoma Cloverleaf skull Glomerulonephritis[mendelian.co] Skeletal dysplasias: e.g., metaphyseal chondrodysplasia[McKusick et al., 19651 and cartilage- hair hypoplasia disease [McKusick et al., 1965; van der Burgt et al., 19911 5[dokumen.tips]

Similar symptoms