User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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McPherson-Clemens Syndrome
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McPherson-Clemens syndrome (also called cleft lip/palate–intestinal malrotation–cardiopathy syndrome) is an extremely rare genetic disorder that affects many ...

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Cleft Palate with Intestinal Malrotation and Cardiopathy Syndrome
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Cleft palate with intestinal malrotation and cardiopathy syndrome (often described as cleft lip/palate–intestinal malrotation–cardiopathy syndrome) is an ...

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Cleft Lip/Palate–Intestinal Malrotation–Cardiopathy Syndrome
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Cleft lip/palate–intestinal malrotation–cardiopathy syndrome is an extremely rare multiple congenital anomaly syndrome that affects the face, mouth, heart, ...

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Zlotogora-Zilberman-Tenenbaum Syndrome
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Zlotogora-Zilberman-Tenenbaum syndrome is an extremely rare genetic condition in which the outer layer of the body (skin, hair, nails, teeth, some glands) and ...

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Zlotogora-Ogur Syndrome
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Zlotogora-Ogur syndrome is a very rare genetic disease that mainly affects body parts made from the outer layer of the embryo (the ectoderm), such as skin, ...

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Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate
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Syndactyly-ectodermal dysplasia-cleft lip/palate is a very rare genetic syndrome where three main problems occur together: parts of the fingers or toes are ...

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Margarita Type of Ectodermal Dysplasia
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Margarita type of ectodermal dysplasia is a very rare genetic condition where a child is born with changes in the lips and palate, skin, hair, nails, and ...

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Cleft Lip and Palate with Syndactyly and Pili Torti
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Cleft lip and palate with syndactyly and pili torti is a very rare genetic condition. Doctors group it inside the ectodermal dysplasia syndromes, which are ...

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Cleft Lip and Cleft Palate with Ectodermal Dysplasia Syndrome
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Cleft lip and cleft palate with ectodermal dysplasia syndrome is a rare condition where a baby is born with a split in the upper lip and/or roof of the mouth, ...

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Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
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Cleft lip/palate-ectodermal dysplasia syndrome is a very rare genetic condition. In this syndrome, a baby is born with a split in the upper lip and/or the roof ...

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Lowry-Yong Syndrome
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Lowry-Yong syndrome is a very rare genetic condition that is present from birth and mainly affects the face, hearing system, lower spine, and some bones of the ...

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Cleft Palate and Cleft Lip with Deafness and Sacral Lipoma Syndrome
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Cleft palate and cleft lip with deafness and sacral lipoma syndrome (also called Lowry–Yong syndrome) is a very rare genetic condition. It has been reported ...

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Cleft Lip/Palate-Hearing Loss-Sacral Lipoma Syndrome
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Cleft lip/palate-hearing loss-sacral lipoma syndrome (also written as cleft lip/palate-deafness-sacral lipoma syndrome) is an extremely rare, inherited birth ...

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Cleft Lip/Palate–Deafness–Sacral Lipoma Syndrome
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Cleft lip/palate–deafness–sacral lipoma syndrome is an extremely rare genetic condition. Children are born with a cleft lip and/or cleft palate, very severe ...

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Cleft Lip-Alveolus-Palate Syndrome
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Cleft lip-alveolus-palate syndrome means that a baby is born with a continuous gap that starts in the upper lip, goes through the gum ridge where the teeth sit ...

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Cleft Lip–Progressive Retinopathy Syndrome
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Cleft lip–progressive retinopathy syndrome is a very rare birth condition. In this condition a baby is born with a cleft lip (a gap in the upper lip) and later ...

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Cleft lip–Cone Rod Dystrophy Syndrome
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Cleft lip–cone rod dystrophy syndrome is an extremely rare inherited condition in which a baby is born with a cleft lip, and later in life develops a ...

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Ausems Wittebol-Post Hennekam Syndrome
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Ausems Wittebol-Post Hennekam syndrome is an extremely rare genetic condition where a child is born with a cleft lip and slowly worsening disease of the ...

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Cleft Lip-Retinopathy Syndrome
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Cleft lip-retinopathy syndrome is an extremely rare congenital condition in which a baby is born with a cleft lip and later develops a slowly worsening disease ...

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Hyaluronidase 2 Deficiency
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Hyaluronidase 2 deficiency is a very rare genetic disease. It happens when both copies of a gene called HYAL2 do not work properly. This gene makes an enzyme ...

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