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68 Possible Causes for Narrow, Beaked Nose, 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[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] […] 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]

    Missing: Beaked Nose
  • Platyspondyly

    Rickets Ulnar deviation of the hand Myelopathy Beaking of vertebral bodies Genu recurvatum Delayed epiphyseal ossification Spinal canal stenosis Abnormality of the hip bone[mendelian.co] 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] 297 Glottic narrowing 298 Enlargement of the epiglottis 299 Laryngeal calcifications 300 Tracheal narrowing B 301 Tracheoesophageal communications 302 Tracheal bowing 303[books.google.com]

  • 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] 297 Glottic narrowing 298 Enlargement of the epiglottis 299 Laryngeal calcifications 300 Tracheal narrowing B 301 Tracheoesophageal communications 302 Tracheal bowing 303[books.google.com] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

    Missing: Beaked Nose
  • Progeria

    The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose;[ncbi.nlm.nih.gov] […] growth retardation, resulting in short stature, low weight and delayed anterior fontanel closure.[ncbi.nlm.nih.gov] Signs and symptoms of this progressive disorder include a distinctive appearance: Slowed growth, with below-average height and weight Narrowed face, small lower jaw, thin[mayoclinic.org] […] wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked[ncbi.nlm.nih.gov]

    Missing: Narrow Greater Sacrosciatic Notch
  • Spondylometaphyseal Dysplasia Type Kozlowski 

    The nose was somewhat beaked, the nares slightly anteverted. The mouth, lips, palate, and philtrum were normal. The chin was of normal size.[doctiktak.com] 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] […] dysplasia, Megarbane-Dagher-Melike type: An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow[malacards.org]

  • Cartilage Hair Hypoplasia

    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] An eight-point linkage analysis modified to take advantage of all possible information in 15 Finnish and 17 Amish families was capable of narrowing the likely location of[ncbi.nlm.nih.gov] Narrowing of the anus (anal stenosis) or blockage of the esophagus (esophageal atresia) may also occur.[ghr.nlm.nih.gov] […] severe rhizomelic limb shortening bowed extremities ("campomelia") skin dimples over bowed extremities Other described anomalies include micrognathia with midface hypoplasia, narrow[radiopaedia.org]

    Missing: Narrow Greater Sacrosciatic Notch
  • Cleidocranial Dysplasia

    From Dorland's, 2000. craniofacial dysostosis an autosomal dominant condition marked by a pointed or conical skull, protruding wide-set eyes, strabismus, parrot-beaked nose[medical-dictionary.thefreedictionary.com] The presented case also had severe disproportionate short stature with US/LS of 1.03 and height of 118 cm (SDS of -4.2).[omjournal.org] Herein is reported the case of monozygotic male 13-year-old twins with typical features of this syndrome, such as large wide-open fontanels, abnormal clavicles with narrow[ncbi.nlm.nih.gov] A narrow pelvis may necessitate caesarean section in the pregnant female.[jpgmonline.com]

    Missing: Narrow Greater Sacrosciatic Notch
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ...[kegg.jp] 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] […] dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow[docslide.com.br]

  • Pseudoachondroplasia

    The nose is curved and shaped like a bird beak, which is why this form of dwarfism is sometimes called “bird-head dwarfism.”[aqppt.org] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] The PSACH iliac crest growth plate is comprised of a large region of resting chondrocytes above a narrow region composed of clusters of disorganized proliferative and hypertrophic[ncbi.nlm.nih.gov] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

    Missing: Narrow Greater Sacrosciatic Notch
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Facial changes included bitemporal narrowing, aprominent beaked nose, slightly prominent eyes, protuberantears, and a receding chin (Fig. 2).[docslide.com.br] […] intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs.[genome.jp] , amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara.[ncbi.nlm.nih.gov] nose, and severe mental retardation [ 2 , 3 ].[link.springer.com]

    Missing: Narrow Greater Sacrosciatic Notch

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