Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
13q32.1
Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger. [From OMIM]
| Subject ID | Country | Sex | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|
| 616145.1 | Saudi Arabia | Male | Yes | Atrial septal defect; Coarctation of aor... Atrial septal defect; Coarctation of aorta; Tricuspid regurgitation; Partial anomalous pulmonary venous return; Pelvic kidney; Bilateral cryptorchidism; Dandy-Walker malformation; Hydrocephalus; Brain atrophy; Abnormality of the hairline; Abnormal nail morphology  | NM_014305.4:c.203A>C | Homozygous | Autosomal, Recessive | Monies et al. 2017 |