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Items: 3

1.

Eiken syndrome

Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features. [from OMIM]

MedGen UID:
325097
Concept ID:
C1838779
Congenital Abnormality; Disease or Syndrome
2.

Splenogonadal fusion-limb defects-micrognathia syndrome

Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF (McPherson et al., 2003). [from OMIM]

MedGen UID:
401073
Concept ID:
C1866745
Disease or Syndrome
3.

Multiple unerupted teeth

The presence of multiple embedded tooth germs which have failed to erupt. [from HPO]

MedGen UID:
870618
Concept ID:
C4025069
Finding
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