Complex lethal osteochondrodysplasia- MedGen UID:
- 900688
- •Concept ID:
- C4225162
- •
- Disease or Syndrome
Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).
Mandibuloacral dysplasia progeroid syndrome- MedGen UID:
- 1741713
- •Concept ID:
- C5436867
- •
- Disease or Syndrome
Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020).
Short stature, Dauber-Argente type- MedGen UID:
- 1794178
- •Concept ID:
- C5561968
- •
- Disease or Syndrome
Short stature of the Dauber-Argente type (SSDA) is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 (147440) due to impaired proteolysis of IGFBP3 (146732) and IGFBP5 (146734), resulting in reduced free IGF1 (Dauber et al., 2016).