Thymic-renal-anal-lung dysplasia- MedGen UID:
- 336425
- •Concept ID:
- C1848812
- •
- Congenital Abnormality
This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome- MedGen UID:
- 343465
- •Concept ID:
- C1856053
- •
- Disease or Syndrome
MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).
Fraser syndrome 2- MedGen UID:
- 1624349
- •Concept ID:
- C4540036
- •
- Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.
Fraser syndrome 3- MedGen UID:
- 1621907
- •Concept ID:
- C4540040
- •
- Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.
Microcephaly 20, primary, autosomal recessive- MedGen UID:
- 1641618
- •Concept ID:
- C4693572
- •
- Congenital Abnormality