Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
7p14.1
Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 146510.1.1 | Saudi Arabia | Female | Yes | No | Seizure; Polydactyly; High palate; Poor ... Seizure; Polydactyly; High palate; Poor suck  | NM_000168.6:c.2432-1G>A | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | |
| 146510.1.2 | Saudi Arabia | Male | Yes | No | Seizure; Polydactyly; High palate; Poor ... Seizure; Polydactyly; High palate; Poor suck | NM_000168.6:c.2432-1G>A | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | Relative of 146510.1... |
Hayek (2018) described a Lebanese-Armenian boy diagnosed with Pallister-Hall Syndrome. The patient had unusual manifestations of the condiiton, including orofacial narrowing and tethered cord.