Create issue ticket

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

  • 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] The radiographic findings in achondroplasia are as follows: Shortening of tubular bones with a normal shaft caliber Short extremities and ribs-versus-trunk length (see the[emedicine.medscape.com] 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

    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] Dyggve-Melchior-Clausen Syndrome is an extremely rare genetic condition which is characterized by abnormal skeletal development, extremely short head, and intellectual disability[epainassist.com] 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]

  • Metaphyseal Chondrodysplasia Type Kaitila

    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] Micromelia MedGen UID: 10031 • Concept ID: C0025995 • Congenital Abnormality The presence of abnormally small extremities. short extremities MedGen UID: 116086 • Concept ID[ncbi.nlm.nih.gov] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[documents.tips]

  • Platyspondyly

    greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] Anauxetic dysplasia MedGen UID: 375972 • Concept ID: C1846796 • Disease or Syndrome Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and[ncbi.nlm.nih.gov] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[mendelian.co] People with anauxetic dysplasia have extreme short stature and severe skeletal abnormalities.[checkorphan.org] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Distal Symphalangism

    greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] However, involvement of the metacarpophalangeal (MP) joint is extremely rare. 2 , 3) Flatt and Wood 3) classified symphalangism into 3 syndromes: true symphalangism in which[pc.ecios.org] […] stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened[mendelian.co]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[rarediseases.info.nih.gov] The long bones were short with mildly flared metaphyses. The metaphyses were also extremely irregular and with marginal sclerosis.[updoc.site] 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]

  • Pelviscapular Dysplasia

    greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] […] may lead to premature fusion of growth plates leading to short stature bowing deformities shepherd crook deformity of the femoral neck discrepant limb length Looser zones[radiopaedia.org] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[mendelian.co]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    greater sacrosciatic notches Optic nerve coloboma Thoracic scoliosis Hand polydactyly Abnormality of the hand Iris hypopigmentation High hypermetropia Bowing of the legs[mendelian.co] extremities.[codelay.com] This is the extreme prenatal form of Cockayne syndrome and presents with congenital microphthalmia and arthrogryposis.[bredagenetics.com]

  • Rhizomelic Syndrome Type Urbach

    greater sacrosciatic notches Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Neurodevelopmental delay Disproportionate short[mendelian.co] Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities.[emedicine.medscape.com] short stature, deformity of the lower limbs, short fingers, and ligamentous laxity give pseudoachondroplasia its distinctive features.[en.wikipedia.org]