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185 Possible Causes for Narrow Greater Sacrosciatic Notch, Proximal Finger Flexion Creases Absent, Severely Disproportionate Short Stature

  • Pelviscapular Dysplasia

    greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] proximal finger flexion creases 0006077 Alveolar ridge overgrowth Overgrowth of gum ridge 0009085 Ambiguous genitalia, female Atypical appearance of female genitals 0000061[rarediseases.info.nih.gov] […] 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 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]

    Missing: Proximal Finger Flexion Creases Absent
  • 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] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

    Missing: Proximal Finger Flexion Creases Absent
  • Mucopolysaccharidosis

    OBJECTIVE: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls.[…][ncbi.nlm.nih.gov]

    Missing: Proximal Finger Flexion Creases Absent Severely Disproportionate Short Stature
  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    greater sacrosciatic notches ; Pectus carinatum ; Pes planus ; Platyspondyly ; Protuberant abdomen ; Scoliosis ; Severe short stature ; Spondyloepimetaphyseal dysplasia Associated[mousephenotype.org] greater sacrosciatic notches 0003375 Pectus carinatum Pigeon chest 0000768 Pes planus Flat feet Flat foot [ more ] 0001763 Protuberant abdomen Belly sticks out Extended belly[rarediseases.info.nih.gov] Genu valgum ; Hyperlordosis ; Hypoplasia of the odontoid process ; Hypoplastic pubic bone ; Inguinal hernia ; Metaphyseal dappling ; Metaphyseal irregularity ; Myopia ; Narrow[mousephenotype.org]

    Missing: Proximal Finger Flexion Creases Absent Severely Disproportionate Short Stature
  • Anauxetic Dysplasia

    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] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov] Disproportionate short-limb short stature is the hallmark finding and is usually recognized in the newborn and occasionally prenatally.[ncbi.nlm.nih.gov]

    Missing: Narrow Greater Sacrosciatic Notch Proximal Finger Flexion Creases Absent
  • SAMS Syndrome

    A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was[…][ncbi.nlm.nih.gov]

    Missing: Proximal Finger Flexion Creases Absent Severely Disproportionate Short Stature
  • Mucopolysaccharidosis 7

    Authors *Paediatric Research Unit, Guy's Hospital Medical School, London S.E. I. Search for more papers by this author M. F. Dean, †The Mathilda and Terence Kennedy Institute of Rheumatology, London W.6. Search for more papers by this author Helen Muir† †The Mathilda and Terence Kennedy Institute of Rheumatology,[…][onlinelibrary.wiley.com]

    Missing: Proximal Finger Flexion Creases Absent Severely Disproportionate Short Stature
  • Platyspondyly

    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] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[sajr.org.za]

    Missing: Proximal Finger Flexion Creases Absent
  • Distal Symphalangism

    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] […] coloboma Ovoid vertebral bodies Peripheral visual field loss Ectopia pupillae Enlarged joints Metaphyseal cupping Spondylometaphyseal dysplasia Cone dysfunction syndrome Narrow[mendelian.co]

    Missing: Proximal Finger Flexion Creases Absent