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]

• Splenomegaly

  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 and splenomegaly [orpha.net]

• Hoarseness

  At age 26, patient 1 had hoarseness due to his severely narrowed larynx and bronchi, as well as joint pain. [omim.org]

• Abdominal Bloating

  […] distention Abdominal 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 [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]

• Hepatomegaly

  […] 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]

  […] 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]

• Coxa Vara

  […] spine atlanto-axial 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 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]

  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]

  […] 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]

  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]

  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

  […] 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]

  lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. [orpha.net]

  […] 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]

• Round Face

  face Circular face Round facial appearance Round facial shape [ more ] 0000311 Splenomegaly Increased spleen size 0001744 5%-29% of people have these symptoms Wormian bones Extra bones within cranial sutures 0002645 Percent of people who have these symptoms [rarediseases.info.nih.gov]

• Low Nasal Root

  […] 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]

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]

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]

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]

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]