Trichorhinophalangeal dysplasia type I- MedGen UID:
- 140929
- •Concept ID:
- C0432233
- •
- Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
Normophosphatemic familial tumoral calcinosis- MedGen UID:
- 355311
- •Concept ID:
- C1864861
- •
- Disease or Syndrome
Autosomal dominant hypocalcemia 2- MedGen UID:
- 815573
- •Concept ID:
- C3809243
- •
- Disease or Syndrome
An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
Hypopigmentation-punctate palmoplantar keratoderma syndrome- MedGen UID:
- 816111
- •Concept ID:
- C3809781
- •
- Disease or Syndrome
Cole disease is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013).
Osteogenesis imperfecta, IIA 22- MedGen UID:
- 1801631
- •Concept ID:
- C5676943
- •
- Disease or Syndrome
Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020).