Vibratory urticaria- MedGen UID:
- 510413
- •Concept ID:
- C0157743
- •
- Disease or Syndrome
Autosomal dominant vibratory urticaria is characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum (Boyden et al., 2016).
Ichthyosis prematurity syndrome- MedGen UID:
- 324839
- •Concept ID:
- C1837610
- •
- Disease or Syndrome
Ichthyosis prematurity syndrome (IPS) is a rare subtype of autosomal recessive congenital ichthyosis, a clinically and genetically heterogeneous group of inherited keratinization disorders. IPS presents with complications at midtrimester of pregnancy leading to prematurity, a thick caseous and desquamating skin, respiratory complications, and persistent eosinophilia. Skin features evolve into a flat follicular hyperkeratosis with atopy (Klar et al., 2004).
Hennekam-Beemer syndrome- MedGen UID:
- 462843
- •Concept ID:
- C3151493
- •
- Disease or Syndrome
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.
Familial cold autoinflammatory syndrome 3- MedGen UID:
- 482544
- •Concept ID:
- C3280914
- •
- Disease or Syndrome
Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012).
For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum- MedGen UID:
- 1790413
- •Concept ID:
- C5551361
- •
- Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. Brain imaging tends to show thin corpus callosum and decreased white matter volume. Additional features such as seizures, cardiac defects, and behavioral abnormalities may also occur. The phenotype is variable (summary by Bina et al., 2020).