Fetal akinesia deformation sequence 1- MedGen UID:
- 220903
- •Concept ID:
- C1276035
- •
- Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
Mesomelia-synostoses syndrome- MedGen UID:
- 324959
- •Concept ID:
- C1838162
- •
- Disease or Syndrome
The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009).
Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).
Lethal congenital contracture syndrome 9- MedGen UID:
- 903881
- •Concept ID:
- C4225303
- •
- Disease or Syndrome
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
Neu-Laxova syndrome 1- MedGen UID:
- 1633287
- •Concept ID:
- C4551478
- •
- Disease or Syndrome
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination- MedGen UID:
- 1684142
- •Concept ID:
- C5193057
- •
- Disease or Syndrome
A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.
Restrictive dermopathy 1- MedGen UID:
- 1812447
- •Concept ID:
- C5676878
- •
- Disease or Syndrome
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.