Create issue ticket

15 Possible Causes for Narrow Greater Sacrosciatic Notch, 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[] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[]

  • 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[] 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[] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[]

  • Platyspondyly

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

  • Distal Symphalangism

    greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[] […] coloboma Ovoid vertebral bodies Peripheral visual field loss Ectopia pupillae Enlarged joints Metaphyseal cupping Spondylometaphyseal dysplasia Cone dysfunction syndrome Narrow[]

  • Spondylometaphyseal Dysplasia

    greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[] […] separated 0000506 Percent of people who have these symptoms is not available through HPO Anterior rib cupping 0000907 Autosomal recessive inheritance 0000007 Coxa vara 0002812 Narrow[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

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

  • Pelviscapular Dysplasia

    greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[] Abnormality of the kidney Renal cyst Acrania Abdominal distention Depressed nasal ridge Renal dysplasia Polycystic kidney dysplasia Pericardial effusion Enlarged kidney Narrow[]

  • 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[] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[]

  • 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[] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[] […] eyebrow Spontaneous abortion Dental malocclusion Smooth philtrum Limited elbow movement Hypopituitarism Cone/cone-rod dystrophy Hypoplastic inferior ilia Femoral bowing Narrow[]

  • Rhizomelic Syndrome Type Urbach

    greater sacrosciatic notches Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Neurodevelopmental delay Disproportionate short[] short stature, deformity of the lower limbs, short fingers, and ligamentous laxity give pseudoachondroplasia its distinctive features.[] Vasculitis in the skin Membranoproliferative glomerulonephritis Craniosynostosis Allergic rhinitis Atopic dermatitis Glomerulonephritis Cellulitis Recurrent skin infections Narrow[]

Further symptoms