User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Brachyolmia
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Brachyolmia is a rare group of genetic bone conditions where the spine’s vertebral bodies are flatter than normal (a finding called platyspondyly). People ...

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Senior Syndrome / Senior–Løken Syndrome
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Senior syndrome or Senior–Løken syndrome (SLSN) — the rare oculo-renal ciliopathy that combines nephronophthisis (kidney scarring that leads to chronic kidney ...

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Brachymorphism-Onychodysplasia-Dysphalangism (BOD) Syndrome
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Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome is a very rare genetic condition. People are usually short in height. The little finger and little ...

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Brachydactyly-Syndactyly Syndrome
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Brachydactyly-syndactyly syndrome is a rare, inherited condition that affects the hands and feet. “Brachydactyly” means the fingers or toes are shorter than ...

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Preaxial Brachydactyly with Hallux Varus and Thumb Abduction
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Preaxial Brachydactyly with Hallux Varus and Thumb Abduction means the short bones are on the “preaxial” side of the limb. This is the thumb side in the hand ...

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Christian Brachydactyly
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Christian brachydactyly is a very rare birth condition that affects the hands and feet. “Brachydactyly” means short fingers or toes. “Preaxial” means the thumb ...

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Brachydactyly-Preaxial Hallux Varus Syndrome
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Brachydactyly-preaxial hallux varus syndrome is a very rare, inherited hand–foot difference. Brachydactyly means some digits are short. ...

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Biemond Syndrome
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Biemond syndrome is the name used for two very rare patterns of findings described in medical reports. In the older usage, “Biemond syndrome” ...

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Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome
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Brachydactyly-nystagmus-cerebellar ataxia syndrome is a very rare congenital condition where a person is born with short fingers or toes (brachydactyly), ...

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Stratton-Garcia-Young Syndrome
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Stratton-Garcia-Young syndrome is another name used in medical catalogs for a very rare condition officially described as brachydactyly-mesomelia-intellectual ...

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Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
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Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome is a very rare, genetic condition that affects several parts of the body at the same ...

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Brachydactyly-Long Thumb Syndrome
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Brachydactyly-long thumb syndrome is a very rare, inherited condition. “Brachydactyly” means the fingers (and sometimes toes) are short. In this syndrome, the ...

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Brachydactyly–Joint Dysplasia Syndrome
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Brachydactyly–joint dysplasia syndrome is a descriptive term for people who have short digits (short bones in the fingers or toes) together with joints that ...

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Brachydactyly–Elbow-Wrist Dysplasia Syndrome
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Brachydactyly–elbow-wrist dysplasia syndrome, also called Liebenberg syndrome, is a rare genetic disorder of limb development. It typically shows: malformed ...

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Brachydactyly Type E, With Short Stature and Hypertension
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brachydactyly type E, with short stature and hypertension is best known as hypertension-with-brachydactyly syndrome (HTNB) or Bilginturan syndrome—a very rare, ...

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Bilginturan Brachydactyly Syndrome
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Bilginturan brachydactyly syndrome is a rare, inherited condition. People are born with short fingers and toes (a pattern called brachydactyly type E) and ...

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Brachydactyly–Arterial Hypertension Syndrome
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Brachydactyly–arterial hypertension syndrome is a rare, inherited disorder. People have short fingers and toes (a pattern called brachydactyly type E) and ...

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Brachydactyly Type E
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Brachydactyly type E is a birth condition where some of the long bones in the hands and feet are shorter than usual. The bones most often affected are the ...

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Brachydactyly Type C (BDC)
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Brachydactyly Type C is a rare birth condition where some finger bones are shorter than usual. Most often, the middle bones of the index, middle, and little ...

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Brachydactyly Type B (BDB)
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Brachydactyly type B is a rare, inherited hand and foot difference where the outermost bones of the fingers and toes (called distal phalanges) do not fully ...

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