Create issue ticket

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

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked[ncbi.nlm.nih.gov] 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

    It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies.[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]

  • Pelviscapular Dysplasia

    Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ...[kegg.jp] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] Pachygyria Anophthalmia Congenital muscular dystrophy Hypoplasia of the brainstem Severe muscular hypotonia Retinal atrophy Optic nerve hypoplasia Atresia of the external[mendelian.co]

  • Platyspondyly

    30% cases Mucopolysacchariduria Hip osteoarthritis Thoracic kyphosis Disproportionate short stature Hypoplasia of the odontoid process Enlarged joints Short thorax Epiphyseal[mendelian.co] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[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]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies.[mendelian.co] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co] short stature, bowed femurs and tibias, short and broad phalanges, loose ligaments with characteristic incomplete extension of the elbows and sparse hair, and was first described[analesdepediatria.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof[rarediseases.info.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] The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and ...Spondylometaphyseal dysplasia, Kozlowski[yvmckfbj.ga]

  • Distal Symphalangism

    There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co]

  • 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]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    Medium match HYPOCHONDROPLASIA Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.[mendelian.co] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.][ebi.ac.uk]

  • Rhizomelic Syndrome Type Urbach

    Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures.[emedicine.medscape.com] greater sacrosciatic notches Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Neurodevelopmental delay Disproportionate short[mendelian.co] Despite the radioclinical similarities between pseudoachondroplasia and multiple epiphyseal dysplasia, the latter is less severe. [3] Signs and symptoms [ edit ] Disproportionate[en.wikipedia.org]

Similar symptoms