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912 Possible Causes for Absent Nails, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Distal Symphalangism

    greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] nails, and rudimentary nails.[ncbi.nlm.nih.gov] Irregularities of length/shape of fingers Flat occiput (brachycephaly) Microdontia Abnormal nails Absent/small nails Other orbital abnormality Decreased hair pigmentation[head-face-med.biomedcentral.com]

  • 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: Absent Nails
  • 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: Absent Nails
  • 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] nails of hallux and pollex Sezary syndrome Shapiro syndrome Sharma Kapoor Ramji syndrome Sharp syndrome Shaver's disease Sheehan syndrome Shigellosis Shith Filkins syndrome[personalizedcause.com] 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]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[mendelian.co] nails of hallux and pollex Sezary syndrome Shapiro syndrome Sharma Kapoor Ramji syndrome Sharp syndrome Shaver's disease Sheehan syndrome Shigellosis Shith Filkins syndrome[personalizedcause.com] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Pelviscapular Dysplasia

    greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] Growth hormone deficiency Nail dystrophy Skin rash Skeletal dysplasia Hypogonadism Osteoporosis Anteriorly placed anus Agenesis of permanent teeth Tics Juvenile zonular cataracts[mendelian.co] , bilateral Toes absent, unilateral Tomaculous neuropathy Tooth and nail syndrome Torg-Winchester syndrome Total color blindness Total congenital cataract Total spina bifida[csbg.cnb.csic.es]

  • Growth Failure

    An anterior pituitary gland was absent in all cases. The posterior pituitary was absent in the majority.[analesdepediatria.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net] The short stature may be either proportionate or disproportionate, severe or mild, and have pre-natal and/or post-natal origin ( 7, 8 ).[frontiersin.org]

    Missing: Narrow Greater Sacrosciatic Notch
  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

    Missing: Absent Nails Severely Disproportionate Short Stature
  • Anonychia Congenita Totalis

    greater sacrosciatic notches Spondylometaphyseal dysplasia Metaphyseal chondrodysplasia Metaphyseal cupping Coronal cleft vertebrae Porencephalic cyst 11 pairs of ribs Long[mendelian.co] Figure 1: Complete absence of nails (anonychia) of all fingers on hands and feet Click here to view Figure 2: A close-up photograph, showing shiny bed with absent nails over[ijhas.in] Note absent nails. d: Feet. Note absent nails. tosomal-recessive traits.[docslide.net]

    Missing: 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: Absent Nails Severely Disproportionate Short Stature

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