Holoprosencephaly 7- MedGen UID:
- 372134
- •Concept ID:
- C1835820
- •
- Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).
For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Hydrolethalus syndrome 1- MedGen UID:
- 343455
- •Concept ID:
- C1856016
- •
- Disease or Syndrome
Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.
Acromelic frontonasal dysostosis- MedGen UID:
- 350933
- •Concept ID:
- C1863616
- •
- Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.
Gollop syndrome- MedGen UID:
- 444125
- •Concept ID:
- C2931720
- •
- Disease or Syndrome
The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissures, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).