User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Alopecia–Intellectual Disability–Hypergonadotropic Hypogonadism (AIHH) Syndrome
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Alopecia–intellectual disability–hypergonadotropic hypogonadism (AIHH) syndrome is a very rare genetic condition. Babies are usually born with total hair loss ...

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Alopecia Intellectual Disability Syndrome 2
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Alopecia-intellectual disability syndrome 2 is a very rare genetic condition. It affects hair growth and brain development. People usually have little or no ...

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Shokeir Syndrome (Pena–Shokeir Syndrome)
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Shokeir syndrome is a rare and often lethal condition that starts before birth. Babies move very little in the womb (called fetal akinesia). Because of the ...

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Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
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Alopecia-Epilepsy-Pyorrhea-Intellectual Disability syndrome is a very rare inherited condition. People are born with no hair on the scalp and body (permanent, ...

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Alopecia Universalis with Onychodystrophy and Vitiligo
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Alopecia universalis is a severe form of alopecia areata. The immune system attacks hair follicles. Hair falls out from the whole body. That means scalp hair, ...

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Generalized Atrichia
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Generalized atrichia means a person has little or no hair on most or all of the body. “Atri-” means “without,” and “-chia” refers to hair. In many babies with ...

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Alopecia Universalis Congenita (AUC)
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Alopecia universalis means complete loss of hair on the scalp and the whole body. The word congenita means the condition is present at birth or starts very ...

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IPP-Gelfand Syndrome (Alopecia–Antibody Deficiency)
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IPP-Gelfand syndrome is a very rare immune system condition in which a person has severe hair loss (often total scalp hair loss, “alopecia totalis”) together ...

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Alopecia Antibody Deficiency
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Alopecia antibody deficiency is a rare condition where a person has significant hair loss (usually alopecia areata, totalis, or universalis) together with an ...

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Perniola-Krajewska-Carnevale Syndrome
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Perniola-Krajewska-Carnevale syndrome is a very rare genetic condition. Children are usually born healthy in terms of vital signs, but they show two main ...

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Alopecia–Intellectual Disability Syndrome
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Alopecia–Intellectual Disability Syndrome is a very rare inherited condition. People with this syndrome have hair loss (sometimes on the whole body, sometimes ...

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Alopecia (Hair Loss)
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Alopecia means hair loss. It is not one single disease. It is a group of conditions where hair becomes thin, breaks easily, falls out in patches, or stops ...

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Alopecia–Contractures–Dwarfism–Intellectual Disability Syndrome (ACD- ID Syndrome)
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Alopecia–Contractures–Dwarfism–Intellectual Disability syndrome (ACD syndrome) is a very rare genetic condition. “Genetic” means it starts before birth because ...

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Pulmonary Aspergillus Disease
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Pulmonary aspergillus disease means a lung problem caused by the mold Aspergillus. The mold lives in soil, dust, plants, old buildings, and indoor air. Most ...

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Hinson-Pepys Disease
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Hinson-Pepys disease is another name for allergic bronchopulmonary aspergillosis (ABPA). It is an allergy-type disease of the lungs. The problem starts when a ...

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Allergic Aspergillosis
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Allergic aspergillosis” usually means allergic bronchopulmonary aspergillosis (ABPA). It is a strong allergy in the lungs to the mold Aspergillus fumigatus. ...

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Allergic Bronchopulmonary Aspergillosis (ABPA)
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Allergic Bronchopulmonary Aspergillosis (ABPA) is an allergic disease of the lungs. It happens when your immune system becomes overly sensitive to a common ...

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X-Linked Intellectual Disability–Hypotonia Syndrome
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X-linked intellectual disability–hypotonia syndrome is a genetic condition that mainly affects the brain, nerves, and muscles. “X-linked” means the change is ...

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Monocarboxylate Transporter 8 (MCT8) Deficiency
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Monocarboxylate transporter 8 deficiency is also called Allan-Herndon-Dudley syndrome (AHDS), SLC16A2-related disorder, X-linked intellectual ...

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MCT8-Specific Thyroid Hormone Cell Transporter Deficiency
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MCT8 deficiency is a rare, X-linked genetic condition that mostly affects boys. A change (pathogenic variant) in the SLC16A2 gene damages a protein called ...

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