Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
2q37.1
This autosomal recessive form of distal arthrogryposis, designated DA5D, is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615065.1.1 | Morocco | Male | Yes | Yes | Distal arthrogryposis; Flexion contractu... Distal arthrogryposis; Flexion contracture of finger; Limited knee flexion; Abnormality of the tarsal bones; Congenital hip dislocation; Ptosis; Hyperlordosis; Decreased muscle mass  | NM_001290787.1:c.1679+7G>T | Homozygous | Autosomal, Recessive | Dieterich et al. 2013 | |
| 615065.1.2 | Morocco | Male | Yes | Yes | Distal arthrogryposis; Flexion contractu... Distal arthrogryposis; Flexion contracture of finger; Limited knee flexion; Abnormality of the tarsal bones; Congenital hip dislocation; Ptosis; Open mouth; Hyperlordosis; Decreased muscle mass | NM_001290787.1:c.1679+7G>T | Homozygous | Autosomal, Recessive | Dieterich et al. 2013 | Sibling of 615065.1.... |
| 615065.2 | Lebanon | Male | Yes | Yes | Distal arthrogryposis; Flexion contractu... Distal arthrogryposis; Flexion contracture of finger; Limited knee flexion; Abnormality of the tarsal bones; Ptosis; Open mouth; Delayed speech and language development; Hyperlordosis; Scoliosis; Decreased muscle mass | NM_001290787.1:c.966+1G>A | Homozygous | Autosomal, Recessive | Dieterich et al. 2013 | |
| 615065.3.1 | United Arab Emirates | Male | No | Yes | Plagiocephaly; Abnormal facial shape; We... Plagiocephaly; Abnormal facial shape; Webbed neck; Camptodactyly; Limited elbow extension; Limited knee flexion; Abnormality of the calf musculature; Scoliosis; Cryptorchidism | NM_004826.4:c.1184+1G>T | Homozygous | Autosomal, Recessive | Hamzeh et al. 2017 | Proband |