Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
11q13.1
Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617107.1.1 | United Arab Emirates | Female | Yes | Yes | Tall stature; Global developmental delay... Tall stature; Global developmental delay; Intellectual disability; Nephroblastoma; Neutropenia; Sensorineural hearing impairment; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Talipes equinovarus; Metatarsus adductus; Tibial bowing; Spina bifida; Ventricular septal defect; Astigmatism; Strabismus; Enlarged kidney; Multicystic kidney dysplasia  | NM_004214.5:c.175_176insTAA | Homozygous | Autosomal, Recessive | Akawi et al. 2016 | |
| 617107.1.2 | United Arab Emirates | Male | Yes | Yes | Tall stature; Global developmental delay... Tall stature; Global developmental delay; Intellectual disability; Neutropenia; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Metatarsus adductus; Talipes equinovarus | NM_004214.5:c.175_176insTAA | Homozygous | Autosomal, Recessive | Akawi et al. 2016 | Brother of 617107.1.... |
| 617107.1.3 | United Arab Emirates | Male | Yes | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Enlarged kidney; Cystic renal dysplasia | NM_004214.5:c.175_176insTAA | Homozygous | Autosomal, Recessive | Akawi et al. 2016 | Sister of 617107.1.1 |