Mesomelic dwarfism, Nievergelt type- MedGen UID:
- 98478
- •Concept ID:
- C0432231
- •
- Disease or Syndrome
A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.
AICA-ribosiduria- MedGen UID:
- 332474
- •Concept ID:
- C1837530
- •
- Disease or Syndrome
AICA-ribosiduria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis (Ramond et al., 2020).
Prieto syndrome- MedGen UID:
- 374294
- •Concept ID:
- C1839730
- •
- Disease or Syndrome
Prieto syndrome (PRS) is an X-linked intellectual developmental disorder characterized by mildly to severely impaired intellectual development, developmental delay, autism spectrum disorder, or neuropsychiatric symptoms, variably accompanied by speech delay, epilepsy, microcephaly, structural brain defects, and minor facial anomalies (summary by Kury et al., 2022).
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia- MedGen UID:
- 355340
- •Concept ID:
- C1864965
- •
- Disease or Syndrome
DPAGT1-congenital disorder of glycosylation- MedGen UID:
- 419694
- •Concept ID:
- C2931004
- •
- Disease or Syndrome
Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway.
For a general discussion of CDGs, see CDG1A (212065).