Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
3p14.1
Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615297.1 | Jordan | Male | Yes | Yes | Aplasia cutis congenita; Umbilical herni... Aplasia cutis congenita; Umbilical hernia; Delayed speech and language development  | NM_173654.3:c.1074del | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615297.2.1 | Egypt | Female | Yes | Yes | Absent distal phalanges; Aplasia of the ... Absent distal phalanges; Aplasia of the middle phalanx of the 4th toe; Aplasia/Hypoplasia of the middle phalanges of the hand | NM_173654.3:c.1130G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018; Shaheen et al. 2013a | |
| 615297.2.2 | Egypt | Male | Yes | Yes | Absent distal phalanges; Aplasia of the ... Absent distal phalanges; Aplasia of the middle phalanx of the 4th toe; Aplasia/Hypoplasia of the middle phalanges of the hand | NM_173654.3:c.1130G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018; Shaheen et al. 2013a | Relative of 615297.2... |
| 615297.2.3 | Egypt | Female | Yes | Yes | Absent distal phalanges; Aplasia of the ... Absent distal phalanges; Aplasia of the middle phalanx of the 4th toe; Aplasia/Hypoplasia of the middle phalanges of the hand | NM_173654.3:c.1130G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018; Shaheen et al. 2013a | Relative of 615297.2... |
| 615297.3.1 | Saudi Arabia | Male | Yes | Yes | Brachydactyly; Umbilical hernia; Delayed... Brachydactyly; Umbilical hernia; Delayed speech and language development; Delayed fine motor development | NM_173654.3:c.1074del | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615297.3.2 | Saudi Arabia | Male | Yes | Yes | Brachydactyly; Umbilical hernia; Delayed... Brachydactyly; Umbilical hernia; Delayed speech and language development; Delayed fine motor development | NM_173654.3:c.1074del | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Relative of 615297.3... |