Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
10q24.1
Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616603.1 | Jordan | Male | No | No | Intrauterine growth retardation; Postnat... Intrauterine growth retardation; Postnatal growth retardation; Cutis laxa; Joint hypermobility; Thin skin; Hernia; Adducted thumb; Microcephaly; Hypotonia; Psychomotor retardation  | NM_002860.4:c.412C>T | Heterozygous | Autosomal, Dominant | Fischer-Zirnsak et al. 2015 | |
| 616603.2 | United Arab Emirates | Male | No | No | Intrauterine growth retardation; Postnat... Intrauterine growth retardation; Postnatal growth retardation; Abnormal facial shape; Cutis laxa; Joint hypermobility; Thin skin; Hernia; Hip dislocation; Adducted thumb; Talipes equinovarus; Abnormality of the curvature of the vertebral column; Microcephaly; Psychomotor retardation; Cataract | NM_002860.4:c.413G>A | Heterozygous | Autosomal, Dominant | Fischer-Zirnsak et al. 2015 |