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Items: 5

1.

Vici syndrome

With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum. [from GeneReviews]

MedGen UID:
340962
Concept ID:
C1855772
Disease or Syndrome
2.

X-linked myotubular myopathy-abnormal genitalia syndrome

A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia. [from SNOMEDCT_US]

MedGen UID:
335354
Concept ID:
C1846169
Disease or Syndrome
3.

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging (Reichert et al., 2020). [from OMIM]

MedGen UID:
1824008
Concept ID:
C5774235
Disease or Syndrome
4.

Absent radius-anogenital anomalies syndrome

A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. [from ORDO]

MedGen UID:
333312
Concept ID:
C1839410
Disease or Syndrome
5.

Penile hypospadias

Location of the urethral opening on the inferior aspect of the penis. [from HPO]

MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
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