Disease Directory

Acrocallosal syndrome (ACS) is a rare condition that affects how the brain and limbs develop. It is characterized by the absence or incomplete formati...

Acrocapitofemoral dysplasia is a rare skeletal disorder that affects bone growth. People with this condition typically have short stature, short limbs...

Acrocardiofacial syndrome (ACFS) is a rare genetic disorder that affects multiple parts of the body. It is characterized by a variety of features incl...

Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare and severe disorder that is inherited in an autosomal recessive manner....

Acrocephalopolysyndactyly (ACPS) is a condition in which individuals show two key features: craniosynostosis and polysyndactyly. Craniosynostosis is w...

Acrocephalosyndactyly (ACS) syndromes are a group of inherited congenital disorders. These conditions are marked by the early fusion of skull bones (c...

Acrocoxomesomelic dysplasia is a severe, dysmorphic condition that mainly affects the growth of the limbs. It is characterized by the shortening of th...

Acrocraniofacial dysostosis is a very rare condition described in two sisters. It is a type of acrofacial dysostosis that involves differences in the...

Acrodermatitis enteropathica is a rare inherited condition in which a severe zinc deficiency occurs. This is because the body has trouble absorbing zi...

Acrodysostosis is a rare primary bone dysplasia that affects the development of the bones, particularly in the limbs and face. It is characterized by...

Acrodysostosis 2 with or without hormone resistance is a rare condition characterized by skeletal abnormalities that occur due to a mutation in the PD...

Information about acrofacial dysostosis is currently limited for this condition. At this time, details about the overall presentation and background o...

Acrofacial dysostosis Cincinnati type is a genetic condition that is defined by a mutation in the POLR1A gene. This means that a change in this gene l...

Acrofacial dysostosis Preis type is a rare condition that has been described in one patient or family. This condition involves abnormalities in the de...

Acrofacial dysostosis Rodriguez type is a rare condition characterized by multiple malformations. It mainly affects the face and limbs, with a severe...

Acrofacial dysostosis, Catania type is a very rare condition that affects the development of the face and limbs. It is noted for causing mild growth p...

Acrofacial dysostosis, Kennedy-Teebi type is a rare condition that affects the face and limbs. It is characterized by features such as a small head (m...

Acrofacial dysostosis, Palagonia type is a very rare condition that has been described in a family from the Sicilian village of Palagonia. People with...

Acrofacial dysostosis, Weyers type (WAD) is a rare genetic disorder that affects the development of the bones of the face, hands, and feet. This condi...

Acrofrontofacionasal dysostosis is a congenital malformation syndrome. It is characterized by facial and skeletal anomalies that are present from birt...