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Items: 5

1.

Complete trisomy 21 syndrome

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
2.

Myhre syndrome

Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors. Organ systems primarily involved include: cardiovascular (congenital heart defects, long- and short-segment stenosis of the aorta and peripheral arteries, pericardial effusion, constrictive pericarditis, restrictive cardiomyopathy, and hypertension); respiratory (choanal stenosis, laryngotracheal narrowing, obstructive airway disease, or restrictive pulmonary disease), gastrointestinal (pyloric stenosis, duodenal strictures, severe constipation); and skin (thickened particularly on the hands and extensor surfaces). Additional findings include distinctive craniofacial features and skeletal involvement (intrauterine growth restriction, short stature, limited joint range of motion). To date, 55 individuals with molecularly confirmed Myhre syndrome have been reported. [from GeneReviews]

MedGen UID:
167103
Concept ID:
C0796081
Disease or Syndrome
3.

Meier-Gorlin syndrome 7

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. [from MONDO]

MedGen UID:
934705
Concept ID:
C4310738
Disease or Syndrome
4.

Annular pancreas

A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. [from HPO]

MedGen UID:
56211
Concept ID:
C0149955
Congenital Abnormality
5.

Duodenal stenosis

The narrowing or partial blockage of a portion of the duodenum. [from HPO]

MedGen UID:
66761
Concept ID:
C0238093
Anatomical Abnormality
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