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Items: 3

1.

Pontine tegmental cap dysplasia

Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007). [from OMIM]

MedGen UID:
762040
Concept ID:
C3541340
Disease or Syndrome
2.

Ramos-Arroyo syndrome

An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity. [from SNOMEDCT_US]

MedGen UID:
418932
Concept ID:
C2930866
Disease or Syndrome
3.

Decreased corneal sensation

Reduced ability of the cornea to respond to stimulation. [from HPO]

MedGen UID:
488834
Concept ID:
C0271292
Disease or Syndrome
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