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 Irapa and the Iraqi types of SEMD superficially resemble the condition present in our patient. [czytelniamedyczna.pl]

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]

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]

• Short Stature

  Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than 30% cases Mucopolysacchariduria Hip osteoarthritis Thoracic kyphosis Disproportionate short stature Hypoplasia of the odontoid process [mendelian.co]

  stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short femur Short thighbone 0003097 Short iliac bones Short pelvis bones 0100866 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length between [rarediseases.info.nih.gov]

• Disproportionate Short Stature

  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]

  Homepage Rare diseases Search Search for a rare disease Spondyloepimetaphyseal dysplasia, Shohat type Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, [orpha.net]

  short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three members of a Jewish family [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]

• Respiratory Insufficiency

  At 4 years, respiratory insufficiency and quadriplegia spontaneously occurred, which was attributed to cervical cord compression. After 4 months of ventilation, the patient died of myocardial infarction. [jmg.bmj.com]

  Surgical palliation of respiratory insufficiency secondary to massive exuberant polyostotic fibrous dysplasia of the ribs. Ann Thorac Surg 1985; 39: 185–7 PubMed CAS Google Scholar Kushihashi T, Munechika H, Sekimizu M, Fujimaki E. [link.springer.com]

• 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]

• Hypertension

  Munich MARCELLA RIETSCHEL 1898 Department of Psychiatry 1899 SOPHIE NICOLE Germany 1901 ALFRIED KOHLSCHÜTTER 1918 GIORA Z FEUERSTEIN Department of Dermatology Venerology and Allergy University Hospital SchleswigHolstein 1925 Division of Nephrology and Hypertension [books.google.es]

  Gunthard J et al: Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for SEDC and achondroplasia. Clin Genet 48:35-40, 1995 39a. Guzman CM, Aaron GR: Spondylometaphyseal dysplasia (Kozlowski type). [syndromefinder.ncchd.go.jp]

• Small Teeth

  Additional findings included prognathism, small teeth, a large tongue, barrel chest, thoracic kyphosis, lumbar hyperlordosis, and limited extension of the elbows but marked laxity of the other joints. [jmg.bmj.com]

• Hepatomegaly

  […] 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 laxity, distended abdomen, mild hepatomegaly [orpha.net]

  […] definitionSpondyloepimetaphyseal 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 laxity, distended abdomen, mild hepatomegaly [malacards.org]

• Hepatosplenomegaly

  Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly. [malacards.org]

  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]

• Lordosis

  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]

  […] disease Spondyloepimetaphyseal dysplasia, Shohat type 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 [orpha.net]

  […] 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 lips, severe lumbar lordosis [malacards.org]

  […] dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. short neck short trunk with protruding abdomen normal IQ spine atlantoaxial instability craniovertebral junction stenosis platyspondyly scoliosis exaggerated lumbar lordosis [radiopaedia.org]

• Coxa Vara

  […] spine atlantoaxial instability craniovertebral junction stenosis platyspondyly scoliosis exaggerated lumbar lordosis limbs mostly in shoulder, hip and knee abnormal, underdeveloped proximal epiphysis short proximal limbs with normal size hands and feet coxa [radiopaedia.org]

  Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning [ghr.nlm.nih.gov]

  Other skeletal signs include flattened vertebrae ( platyspondyly ), severe protrusion of the breastbone ( pectus carinatum ), a hip joint deformity in which the upper leg bones turn inward ( coxa vara ), and a foot deformity known as clubfoot. [en.wikipedia.org]

  […] 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]

• Fracture

  It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. [malacards.org]

  Its importance is confined to its differentiation from more serious odontoid anomalies and fractures. [rrnursingschool.biz]

  Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization [omim.org]

  Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, [mendelian.co]

  Sagittal Imbalance 1285 Basic Science of Spinal Cord Injury 1298 Injuries of the Upper Cervical Spine 1307 Injuries of the Lower Cervical Spine 1333 Thoracic and Lumbar Spinal Injuries 1363 Late Decompression of Patients with Spinal Cord Injury 1390 Sacral Fractures [books.google.es]

• Short Trunk

  Reference article, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-54316 Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. short neck short trunk with protruding abdomen [radiopaedia.org]

  Learn more Other less relevant matches: Low match BRACHYOLMIA TYPE 3; BCYM3 Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature [mendelian.co]

  People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. [ghr.nlm.nih.gov]

  Presentation [ edit ] People with this condition are short-statured from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. [en.wikipedia.org]

  Note depressed nasal bridge, slightly prominent chin, short trunk, and short limbs. (B) The pithecoid stance and lumbar hyperlordosis point to flexion contractures of the hips. [jmg.bmj.com]

• Severe Short Stature

  […] type Related symptoms: Autosomal dominant inheritance Short stature Myopia Severe short stature Kyphoscoliosis SOURCES: OMIM GARD SCTID MESH ORPHANET UMLS MONDO More info about SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE Low match DYSSPONDYLOENCHONDROMATOSIS [mendelian.co]

  All 3 boys had severe short stature, short neck, small chest, distended abdomen, lumbar lordosis, and marked genu varum. Radiologic manifestations during the first months of life were similar to those in achondroplasia (100800). [omim.org]

  short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short femur Short thighbone 0003097 Short iliac bones Short pelvis bones 0100866 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length [rarediseases.info.nih.gov]

• Suggestibility

  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]

  She does so in order to challenge the bifurcation of hegemonic narratives and to suggest that, indeed, space exists for imagining future solidarities. [prtcls.com]

  Shohat et al. (1993) suggested that spondyloepimetaphyseal dysplasia in the family they reported had autosomal recessive inheritance. [omim.org]

  […] members of a Jewish family of Iraqi origin and one Mexican boy.Clinical descriptionThe long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay.EtiologyAutosomal recessive inheritance has been suggested [malacards.org]

• 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]

  […] stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short femur Short thighbone 0003097 Short iliac bones Short pelvis bones 0100866 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length between [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]

  […] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 30%-79% of people have these symptoms Abdominal distention Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ] 0003270 Depressed nasal bridge Depressed bridge of nose [rarediseases.info.nih.gov]

• Forgetful

  Movement Research: Performance Journal. ^ https://www.arabfilm.com/item/265/ See also: FORGET BAGHDAD - Official Trailer: https://www.youtube.com/watch?v=e7eyiHpIBnk ^ "Fresh Blood". [en.wikipedia.org]

There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. [rarediseases.info.nih.gov]

[…] form vertebral hypoplasia femoral head flattening and late epiphyseal development large and dolichocephalic skull metaphyseal widening with rhizomelic shortening odontoid process hypoplasia absent calcaneal and knee epiphysis at birth Treatment and prognosis [radiopaedia.org]

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 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]

Os odontoideum: Etiology, diagnosis and management. Surg Neurol 2000;53:106-9. [ PUBMED ] [ FULLTEXT ] 2. Fielding JW, Hensinger RN, Hawkins RJ. Os odontoideum. J Bone Joint Surg Am 1980;62:376-83. [ PUBMED ] 3. [pediatricneurosciences.com]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Epidemiology The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. [rarediseases.info.nih.gov]

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]

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]

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]

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]