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]

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]

[…] 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]

(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]

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]

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]

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]

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]

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 disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hepatomegaly [rarediseases.info.nih.gov]

[…] 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]

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]