Severe dermatitis-multiple allergies-metabolic wasting syndrome- MedGen UID:
- 816049
- •Concept ID:
- C3809719
- •
- Disease or Syndrome
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties- MedGen UID:
- 1824001
- •Concept ID:
- C5774228
- •
- Disease or Syndrome
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) is an autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death (Shankar et al., 2022).