Schinzel phocomelia syndrome- MedGen UID:
- 336388
- •Concept ID:
- C1848651
- •
- Disease or Syndrome
The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).
Cohen-Gibson syndrome- MedGen UID:
- 1386939
- •Concept ID:
- C4479654
- •
- Disease or Syndrome
EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced bone age) and intellectual disability that ranges from mild to severe. To date, EED-related overgrowth has been reported in eight individuals.
Diets-Jongmans syndrome- MedGen UID:
- 1714920
- •Concept ID:
- C5394263
- •
- Disease or Syndrome
Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by Diets et al., 2019).
Faundes-Banka syndrome- MedGen UID:
- 1782083
- •Concept ID:
- C5543554
- •
- Disease or Syndrome
Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).
Congenital disorder of glycosylation, type Iw, autosomal dominant- MedGen UID:
- 1794278
- •Concept ID:
- C5562068
- •
- Disease or Syndrome
Autosomal dominant congenital disorder of glycosylation type Iw (CDG1WAD) is characterized by variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; about half of patients have impaired intellectual development. Additional features include increased muscle tone and muscle cramps (Wilson et al., 2021).