Cat eye syndrome- MedGen UID:
- 120543
- •Concept ID:
- C0265493
- •
- Disease or Syndrome
Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).
Holoprosencephaly-postaxial polydactyly syndrome- MedGen UID:
- 340382
- •Concept ID:
- C1849649
- •
- Disease or Syndrome
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.
Cardiac Valvular Defect, Developmental- MedGen UID:
- 349143
- •Concept ID:
- C1859330
- •
- Disease or Syndrome
Structural heart defects and renal anomalies syndrome- MedGen UID:
- 1387412
- •Concept ID:
- C4479549
- •
- Disease or Syndrome
Feingold syndrome type 1- MedGen UID:
- 1637716
- •Concept ID:
- C4551774
- •
- Disease or Syndrome
Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.