Diseases of the nervous system
Polyneuropathies and other disorders of the peripheral nervous system
17q21.2
Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616286.1 | Lebanon | Male | No | No | Delayed speech and language development;... Delayed speech and language development; Generalized neonatal hypotonia; Respiratory distress; Arthrogryposis multiplex congenita; Global developmental delay; Motor delay; Failure to thrive; Polyhydramnios; Generalized-onset seizure  | NM_003632.3:c.3361C>T | Homozygous | Autosomal, Recessive | Nair et al. 2018; Sabbagh et al, 2020 | |
| 616286.2.1 | Qatar | Female | Yes | Yes | Polyhydramnios; Fetal distress; Bradycar... Polyhydramnios; Fetal distress; Bradycardia; Bilateral microphthalmos; Weakness of facial musculature; Abnormality of jaw muscles | NM_003632.3:c.1561dup | Homozygous | Autosomal, Recessive | Lakhani et al. 2017 | Has 2 similarly affe... |
| 616286.2.2 | Qatar | Female | Yes | Yes | Polyhydramnios; Neonatal death Polyhydramnios; Neonatal death | NM_003632.3:c.1561dup | Homozygous | Autosomal, Recessive | Lakhani et al. 2017 | Sibling of 616286.2.... |
| 616286.2.3 | Qatar | Female | Yes | Yes | Joint contracture; Polyhydramnios; Muscu... Joint contracture; Polyhydramnios; Muscular dystrophy; Neonatal death | NM_003632.3:c.1561dup | Homozygous | Autosomal, Recessive | Lakhani et al. 2017 | Sibling of 616286.2.... |