Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome, caused by mutations in the GLI3 gene, is characterized by a combination of craniofacial and limb features. The facial appearance may include large head ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
What is Acrocephalosyndactyly?
The acrocephalosyndactyly (ACS) disorders are a group of rare genetic disorders including Apert syndrome (type I), Apert-Crouzon disease (type II), and Saethre-Chotzen syndrome (type III). All are ...
Goodman Syndrome
Goodman syndrome (ACPS type IV) and Summitt syndromes are extremely rare genetic disorders that are apparent at birth (congenital). Due to premature closure of certain cranial sutures, the head ...
What is Sakati Syndrome?
Sakati syndrome, also known as acrocephalopolysyndactyly (ACPS) type III, is a rare genetic disorder characterized by early closure of certain cranial sutures (craniosynostosis), causing the head to ...
Progressive Hydrocephalus
Progressive hydrocephalus is a medical condition that affects the brain and can lead to various health problems. In this article, we will break down the key aspects of progressive hydrocephalus, ...
Proptosis
Proptosis, commonly known as "bulging eyes" or "exophthalmos," is a medical condition where one or both eyes protrude from their sockets. This condition can occur for various reasons, and it's ...
Cloverleaf Skull Deformity
Cloverleaf skull deformity is a rare condition that affects the shape of a baby's skull. In this article, we will break down everything you need to know about cloverleaf skull deformity in simple, ...
Early Closure of Cranial Sutures
Early closure of cranial sutures, also known as craniosynostosis, is a condition where the seams (sutures) between the bones of an infant's skull close prematurely. This condition can affect the ...
Kleeblattschadel Craniosynostosis
Kleeblattschadel craniosynostosis is a rare condition that affects the shape of a child's skull. In this article, we will provide simple and easy-to-understand explanations of various aspects of this ...
Hyperdontia
Hyperdontia is a condition where a person has extra teeth beyond the normal set. This condition can vary in severity and is essential to understand to ensure proper diagnosis and treatment. In this ...
Trichothiodystrophy
Trichothiodystrophy (TTD) is a rare genetic disorder that affects the development of hair, skin, and nails. This article aims to provide a clear and concise overview of TTD, including its types, ...
Treatments for Ectodermal Dysplasia
Ectodermal dysplasia (ED) is a rare genetic disorder that affects various parts of the body, primarily those derived from the ectodermal germ layer during embryonic development. This condition can ...
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