Axenfeld-Rieger syndrome

An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.

Axenfeld-Rieger syndrome type 1

An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.

Axenfeld-Rieger syndrome type 2

An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14.

SHORT syndrome

A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.

Axenfeld-Rieger syndrome type 3

An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.

chronic eosinophilic pneumonia

An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease.

pulmonary valve insufficiency

A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.

motility-related diarrhea

A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.

infantile hypotonia with psychomotor retardation and characteristic facies-3

An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.

Ullrich congenital muscular dystrophy

A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.