finger Abnormality of epiphysis morphology Flexion contracture Elevated serum creatine phosphokinase Spondyloepiphyseal dysplasia Arthralgia Hypoplasia of the odontoid process Progressive Proximal muscle weakness Skeletal muscle atrophy Hip osteoarthritis [mendelian.co]

[…] dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset. ( 12401991 ) de Ravel TJ...Fryns JP 2002 37 Rhizomelic spondyloepimetaphyseal dysplasia. ( 11666005 ) Bieganski T...Kozlowski K 2001 38 A new syndrome of spondyloepimetaphyseal dysplasia, eczema [malacards.org]

[…] spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. ( 30124491 ) 2019 2 Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly [malacards.org]

Symphalangism brachydactyly craniosynostosis, Symphalangism distal, Symphalangism familial proximal, Symphalangism short stature accessory testis, Symphalangism with multiple anomalies of hands and feet, Symphalangism distal with microdontia dental [yumpu.com]

[…] heterozygous parents of those with Robinow syndrome do not have brachydactyly. 18, 19 Similarly, heterozygous IHH mutations cause brachydactyly type A1 (BDA1), whereas homozygous mutations cause acrocapital femoral dysplasia (ACFD) with no manifestations [jmg.bmj.com]

Spondyloepimetaphyseal dysplasia Matrilin-3 related may include: Spondyloepimetaphyseal dysplasia Dysplasia Disproportionate short-limb short stature Flat acetabular roof Irregular epiphyses Lumbar hyperlordosis Metaphyseal widening Micromelia Ovoid vertebral bodies Platyspondyly [familydiagnosis.com]

[…] epiphyses Irregular end part of long bone 0010582 Metaphyseal spurs 0005054 Metaphyseal widening Broad wide portion of long bone 0003016 Micromelia Smaller or shorter than typical limbs 0002983 Narrow iliac wings 0002868 Ovoid vertebral bodies 0003300 Platyspondyly [rarediseases.info.nih.gov]

Skeletal radiographies show platyspondyly and charac-teristic vertebral body shape with central indentation of end-plates, progressive, and severe metaphyseal changes, very smalland irregular proximal femoral epiphyses with severe coxa vara,absence of [docslide.com.br]

Spine and Pelvis  Platyspondyly 42 43. [slideshare.net]

Often, the patients may develop the spine impairment, such as mild platyspondyly or other abnormalities of the vertebral body. 2.1.2.5. [intechopen.com]

Someone with SEMD, MATN3-related will have early-onset disproportionate dwarfism. This means that they will be shorter than most other people. They will also have body parts that are too large or small compared to their body size. [diseaseinfosearch.org]

dwarfism with similar clinical and radiological features. [jmg.bmj.com]

•Thanatophoric dysplasia is characterized by disproportionate dwarfism with very short extremities, which are bowed in type 1 and may be 66. •The trunk length is normal, but the thorax is narrow. [slideshare.net]

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]

•Thanatophoric dysplasia is characterized by disproportionate dwarfism with very short extremities, which are bowed in type 1 and may be 66. •The trunk length is normal, but the thorax is narrow. [slideshare.net]

Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Waddling gait 'Waddling' gait [rarediseases.info.nih.gov]