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Spondyloepimetaphyseal Dysplasia Type Shohat

SEMD Shohat


Presentation

  • We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genua vara, and joint laxity.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The Irapa and the Iraqi types of SEMD superficially resemble the condition present in our patient.[czytelniamedyczna.pl]
  • Congenital SEDs can usually be differentiated from MPS IVA because symptoms are present at birth.[omicsonline.org]
  • Presents the work of many new contributors for fresh perspectives on the current state of pediatric endocrinology. Provides new tables of normal values and growth charts for monitoring your patients' progress.[books.google.es]
Abdominal Bloating
  • bloating Abdominal swelling Belly bloating Bloating [ more ] 0003270 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Gait[rarediseases.info.nih.gov]
Abdominal Distension
  • Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly.[malacards.org]
  • We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genua vara, and joint laxity.[ncbi.nlm.nih.gov]
  • Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly (summary by Egunsola et al., 2017).[omim.org]
Coxa Vara
  • […] bones within cranial sutures 0002645 Percent of people who have these symptoms is not available through HPO Abnormality of the abdominal wall 0004298 Autosomal recessive inheritance 0000007 Bell-shaped thorax 0001591 Central vertebral hypoplasia 0008463 Coxa[rarediseases.info.nih.gov]
Hypoplasia of the Femoral Neck
  • (B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. The acetabular fossae are shallow and slanted with a wide iliac angle.[jmg.bmj.com]
Short Extremities
  • 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 following image) Shortened ribs.[emedicine.medscape.com]
Genu Valgum
  • SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE Is also known as spondylometaphyseal dysplasia, schmidt type, spondylometaphyseal dysplasia with severe genu valgum;spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian[mendelian.co]
Short Neck
  • Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly.[malacards.org]
  • We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genua vara, and joint laxity.[ncbi.nlm.nih.gov]
  • Orpha Number: 93352 Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint[rarediseases.info.nih.gov]
  • Orpha Number: 93352 Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature , short limbs, small chest, short neck, thin lips, severe lumbar lordosis , marked genu varum, joint[rarediseases.info.nih.gov]
Thin Lips
  • lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.[orpha.net]
  • […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin[malacards.org]
  • Orpha Number: 93352 Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint[rarediseases.info.nih.gov]
  • Orpha Number: 93352 Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature , short limbs, small chest, short neck, thin lips, severe lumbar lordosis , marked genu varum, joint[rarediseases.info.nih.gov]
Round Face
  • […] nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hepatomegaly Enlarged liver 0002240 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Round[rarediseases.info.nih.gov]
Low Nasal Root
  • nasal root [ more ] 0005280 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hepatomegaly Enlarged liver 0002240 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Round face Circular face Round facial[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hepatomegaly[rarediseases.info.nih.gov]

Treatment

Prognosis

  • Scheuermann’s juvenile kyphosis: clinical appearance, radiology, aet-iology and prognosis. Copenhagen: Munksgaard, 1964. 54 Freed LA, Levy D, Levine RA, Larson MG, Evans JC, Fuller DL et al. Prevalence and clinical outcome of mitral valve prolapse.[nature.com]

Etiology

  • Etiology Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Etiology Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. Last updated: 11/15/2009 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]

Epidemiology

  • ORPHA:93352 Synonym(s): SEMD, Shohat type Prevalence: Inheritance: - Age of onset: - ICD-10: Q77.7 OMIM: 602557 UMLS: C1865185 MeSH: - GARD: 4980 MedDRA: - Summary Epidemiology The syndrome has been described in three members of a Jewish family of Iraqi[orpha.net]
  • Epidemiology The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Prevention

  • The current thought is that Read more Understanding how Zika virus causes microcephaly would hint at possibilities for preventing this irreparable condition in newborns.[fromthelabs.bcm.edu]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.[en.wikipedia.org]
  • Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of spondyloepimetaphyseal dysplasia, Strudwick type .[ghr.nlm.nih.gov]
  • The dens is tightly bound to C-1 by the transverse ligament, which prevents forward subluxation of the atlas during neck flexion and extension.[arthritisresearch.us]
  • In fact, serious neurological compromise can be prevented by proper management (Hensinger 1991).[rrnursingschool.biz]

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