Disease Index

group of diseases

rare disease

Human disease

disease

dysostosis that results in shortening of interphalangeal joints located in hand or located in foot along with mental deficiency

human disease

human disease

Human disease

Human disease

Human disease

human disease

dysostosis characterized

Skin condition

medical condition

Human disease

Acromegaly is a rare endocrine disorder caused by excessive growth hormone secretion, typically from a pituitary adenoma, occurring after epiphyseal closure. Clinical features include progressive enlargement of hands, feet, and facial features, along with metabolic complications, cardiovascular disease, and increased cancer risk. The estimated prevalence is 40-125 cases per million population, with an annual incidence of 3-4 cases per million.

Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.

human disease

dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations

osteochondrodysplasia that has material basis in mesomelia and acromelia, which results in short limb Dwarfism

acromesomelic dysplasia that has material basis in mutation in CDMP-1 which results in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones

acromesomelic dysplasia that has material basis in mutation in AMDH gene which results in normal axial skeleton but fused bones in the located in hand or located in foot

acromesomelic dysplasia that has material basis in mutation in NPR-B receptor which results in severe dwarfism, abnormalities of the located in vertebral column and shortening of middle and distal segments in the located in limb

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands

human disease

Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies

isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality