thumb Wide/broad thumb Broad thumbs [ more ] 0011304 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Low-set, posteriorly rotated ears 0000368 Lumbar hyperlordosis Excessive inward curvature of lower spine [rarediseases.info.nih.gov]

finger ; Short neck ; Spondyloepimetaphyseal dysplasia Associated Genes ACAN (Withdrawn symbols: AGC1, CSPG1, CSPGCP, MSK16 ) Mouse Orthologs Acan (Withdrawn symbols: Agc1, b2b183Clo, cmd ) Source OMIM:612813 (names, synonyms, disease associated genes [mousephenotype.org]

It also causes short fingers and toes. SEMD, aggrecan type is passed down from parents to their children through genes. Genes are segments of DNA that act as the body’s instruction manual. DNA is a “code” made up of small parts called nucleotides. [diseaseinfosearch.org]

Showing of 25 80%-99% of people have these symptoms Abnormality of the nail 0001597 Absent nasal bridge Missing nasal bridge Absent bridge of nose Missing bridge of nose [ more ] 0005285 Barrel-shaped chest Barrel chest 0001552 Brachydactyly Short fingers [rarediseases.info.nih.gov]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Showing of 25 80%-99% of people have these symptoms Abnormality of the nail 0001597 Absent nasal bridge Missing nasal bridge Absent bridge of nose Missing bridge of nose [ more ] 0005285 Barrel-shaped chest Barrel chest 0001552 Brachydactyly Short fingers [rarediseases.info.nih.gov]

Name Spondyloepimetaphyseal Dysplasia, Aggrecan Type Synonyms SEMD, AGGRECAN TYPE Classification bone, developmental, genetic Phenotypes Absent nasal bridge ; Autosomal recessive inheritance ; Barrel-shaped chest ; Brachydactyly ; Broad thumb ; Hoarse [mousephenotype.org]

[…] voice Hoarseness Husky voice [ more ] 0001609 1%-4% of people have these symptoms Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Posteriorly rotated ears Ears rotated toward back of head 0000358 Short [rarediseases.info.nih.gov]

abnormality 0002795 Hoarse voice Hoarseness Husky voice [ more ] 0001609 1%-4% of people have these symptoms Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Posteriorly rotated ears Ears rotated toward [rarediseases.info.nih.gov]

[…] dysmorphism and characteristic radiographic findings.EpidemiologyTo date, three cases have been described, all originating from the same family.Clinical descriptionFacial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism [malacards.org]

Note the relative macrocephaly and lordosis in II-2 inthe top right image, the telescoping fingers of II-3 in the lower left image, and the midface hypoplasia, relative prognathism, and low-setears in II-4 in the lower right image.The American Journal [docslide.com.br]

Clinical description Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. [rarediseases.info.nih.gov]

2016-11-28T06:08:19 00:00 ORTHOPAEDICS Definition Spondyloepimetaphyseal dysplasia—aggrecan type is an autosomal recessive bone disorder (OMIM:612813) characterised by severe short stature, macrocephaly, midface hypoplasia, short neck, barrel chest and brachydactyly [newmedicalterms.com]

[…] phenotypes are short neck and mandibular prognathia UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia, aggrecan type: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly [malacards.org]

Name Spondyloepimetaphyseal Dysplasia, Aggrecan Type Synonyms SEMD, AGGRECAN TYPE Classification bone, developmental, genetic Phenotypes Absent nasal bridge ; Autosomal recessive inheritance ; Barrel-shaped chest ; Brachydactyly ; Broad thumb ; Hoarse [mousephenotype.org]

Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly. [rarediseases.info.nih.gov]

The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. [malacards.org]

Imaging Long bones with irregular epiphyses and widened metaphyses, especially of the knees, platyspondyly, and multiple cervical-vertebral clefts. [newmedicalterms.com]

[…] inheritance ; Barrel-shaped chest ; Brachydactyly ; Broad thumb ; Hoarse voice ; Irregular epiphyses ; Joint laxity ; Low-set ears ; Lumbar hyperlordosis ; Malar flattening ; Mandibular prognathia ; Mesomelia ; Metaphyseal widening ; Midface retrusion ; Platyspondyly [mousephenotype.org]

Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly. [rarediseases.info.nih.gov]

Affiliated tissues include bone, and related phenotypes are short neck and mandibular prognathia UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia, aggrecan type: A bone disease characterized by severe short stature, macrocephaly, severe midface [malacards.org]

[…] content spondyloepimetaphyseal dysplasia—aggrecan type Joe Segen 2016-11-28T06:08:19 00:00 ORTHOPAEDICS Definition Spondyloepimetaphyseal dysplasia—aggrecan type is an autosomal recessive bone disorder (OMIM:612813) characterised by severe short stature, macrocephaly [newmedicalterms.com]

Broad thumb ; Hoarse voice ; Irregular epiphyses ; Joint laxity ; Low-set ears ; Lumbar hyperlordosis ; Malar flattening ; Mandibular prognathia ; Mesomelia ; Metaphyseal widening ; Midface retrusion ; Platyspondyly ; Posteriorly rotated ears ; Relative macrocephaly [mousephenotype.org]

SEMD, aggrecan type will also cause macrocephaly (large head). SEMD, aggrecan type will cause growth problems in the femur (thigh bone) and the spine (the group of bones that run along a person’s back). [diseaseinfosearch.org]

They had short necks and barrel chests andexhibited amild lumbar lordosis. Their extremities showedrhizomelia and mesomelia with no bowing of anysegment. [docslide.com.br]

Kyphosis and exaggeration of the normal lumbar lordosis are common. The proximal segments of the limbs are shorter than the hands and feet, which often appear normal. Some infants have clubfoot or exhibit hypotonia. [clinicalgate.com]

Other frequent signs are hyperacusis, thick voice, articular hyperlaxity, kyphoscoliosis and lordosis. [intechopen.com]

Note the short extremities, relatively normal hands, flat facies, and exaggerated lordosis. Skeletal radiographs of the newborn reveal short tubular bones, delayed ossification of vertebral bodies, and proximal limb bone epiphyses ( Fig. 686-3 ). [clinicalgate.com]

Type Synonyms SEMD, AGGRECAN TYPE Classification bone, developmental, genetic Phenotypes Absent nasal bridge ; Autosomal recessive inheritance ; Barrel-shaped chest ; Brachydactyly ; Broad thumb ; Hoarse voice ; Irregular epiphyses ; Joint laxity ; Low-set [mousephenotype.org]

ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Posteriorly rotated ears Ears rotated toward back of head 0000358 Short finger Stubby finger Stubby fingers [ more ] 0009381 Percent of people who have these [rarediseases.info.nih.gov]

posteriorly rotated ears 0000368 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower [rarediseases.info.nih.gov]

[…] hypoplasia, short neck, barrel chest and brachydactyly. [malacards.org]

neck, barrel chest and brachydactyly. [newmedicalterms.com]

neck ; Spondyloepimetaphyseal dysplasia Associated Genes ACAN (Withdrawn symbols: AGC1, CSPG1, CSPGCP, MSK16 ) Mouse Orthologs Acan (Withdrawn symbols: Agc1, b2b183Clo, cmd ) Source OMIM:612813 (names, synonyms, disease associated genes), Orphanet (disease [mousephenotype.org]

They had short necks and barrel chests andexhibited amild lumbar lordosis. Their extremities showedrhizomelia and mesomelia with no bowing of anysegment. [docslide.com.br]

[…] symbols: AGC1, CSPG1, CSPGCP, MSK16 ) Mouse Orthologs Acan (Withdrawn symbols: Agc1, b2b183Clo, cmd ) Source OMIM:612813 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes [mousephenotype.org]

Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). [books.google.com]

Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella [books.google.de]