Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
5q35.1
Frank-Ter Haar Syndrome is an extremely rare disorder characterized by skeletal, cardiovascular and ocular abnormalities. These include megalocornea, brachycephaly, wide fontanels, hypertelorism, bowing of the long bones, and flexion deformity of fingers.
Mutations in the SH3PXD2B gene have been shown to cause this condition.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 249420.1 | Saudi Arabia | Male | Yes | Yes | Megalocornea; Developmental cataract; Gl... Megalocornea; Developmental cataract; Glaucoma; Failure to thrive; Global developmental delay  | NM_001017995.3:c.280C>G | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |
Frank et al. (1973) described a Bedouin girl born to consanguineous parents who presented with megalocornea and multiple skeletal malformations. They were the first to postulate that these constellations of findings represent a new genetic syndrome associated with megalocornea.
See Syria > Mégarbané et al. (1997) and Iqbal et al. (2010)
Mégarbané et al. (1997) described two siblings, born to consanguineous Lebanese-Syrian parents, who presented with congenital glaucoma, large anterior fontanelle, hypertelorism, prominent coccyx with skin fold, flexion deformities of fingers, and other osseous malformations. Later, Iqbal et al. (2010) discovered that these two brothers carried a homozygous deletion in chromoosme 5q that included the SH3PXD2B gene.